PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) - Rat Genome Database

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Gene: PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) Homo sapiens
Analyze
Symbol: PIEZO1
Name: piezo type mechanosensitive ion channel component 1 (Er blood group) (Ensembl:piezo type mechanosensitive ion channel component 1)
RGD ID: 1318815
HGNC Page HGNC:28993
Description: Enables mechanosensitive monoatomic cation channel activity. Involved in positive regulation of cell-cell adhesion mediated by integrin; positive regulation of integrin activation; and positive regulation of myotube differentiation. Located in endoplasmic reticulum. Implicated in dehydrated hereditary stomatocytosis 1 and hereditary lymphedema.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DHS; ER; FAM38A; family with sequence similarity 38, member A; KIAA0233; LMPH3; LMPHM6; membrane protein induced by beta-amyloid treatment; Mib; piezo type mechanosensitive ion channel component 1; piezo-type mechanosensitive ion channel component 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PIEZO1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381688,715,338 - 88,785,220 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1688,715,338 - 88,785,220 (-)EnsemblGRCh38hg38GRCh38
GRCh371688,781,746 - 88,851,628 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,309,247 - 87,351,726 (-)NCBINCBI36Build 36hg18NCBI36
Build 341687,309,255 - 87,330,160NCBI
Celera1673,852,958 - 73,920,009 (-)NCBICelera
Cytogenetic Map16q24.3NCBI
HuRef1674,477,633 - 74,549,500 (-)NCBIHuRef
CHM1_11690,193,016 - 90,262,540 (-)NCBICHM1_1
T2T-CHM13v2.01694,785,806 - 94,856,736 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal blood potassium concentration  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal venous morphology  (IAGP)
Adrenocorticotropic hormone deficiency  (IAGP)
Anemia of inadequate production  (IAGP)
Angiosarcoma  (IAGP)
Ankle swelling  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cellulitis  (IAGP)
Cholelithiasis  (IAGP)
Chylothorax  (IAGP)
Congenital hemolytic anemia  (IAGP)
Conjunctival icterus  (IAGP)
Cupped ear  (IAGP)
Deep venous thrombosis  (IAGP)
Edema  (IAGP)
Epicanthus  (IAGP)
Episodic fatigue  (IAGP)
Erysipelas  (IAGP)
Exercise-induced hemolysis  (IAGP)
Facial edema  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized edema  (IAGP)
Genital edema  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemoglobinuria  (IAGP)
Hemolytic anemia  (IAGP)
Hepatitis  (IAGP)
Hepatomegaly  (IAGP)
Hydrocele testis  (IAGP)
Hydrops fetalis  (IAGP)
Hyperkeratosis  (IAGP)
Hypochromia  (IAGP)
Hypothyroidism  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased circulating hemoglobin concentration  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased mean corpuscular hemoglobin concentration  (IAGP)
Increased mean corpuscular volume  (IAGP)
Increased red cell hemolysis by shear stress  (IAGP)
Increased red cell osmotic fragility  (IAGP)
Increased total bilirubin  (IAGP)
Intermittent jaundice  (IAGP)
Intestinal lymphangiectasia  (IAGP)
Jaundice  (IAGP)
Lichenification  (IAGP)
Lymphedema  (IAGP)
Macrocytic anemia  (IAGP)
Micrognathia  (IAGP)
Neonatal hyperbilirubinemia  (IAGP)
Neoplasm of the skin  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Nonspherocytic hemolytic anemia  (IAGP)
Pallor  (IAGP)
Pectus excavatum  (IAGP)
Pedal edema  (IAGP)
Periorbital edema  (IAGP)
Pleural effusion  (IAGP)
Polycythemia  (IAGP)
Polyhydramnios  (IAGP)
Portal vein thrombosis  (IAGP)
Predominantly lower limb lymphedema  (IAGP)
Prune belly  (IAGP)
Pulmonary venous hypertension  (IAGP)
Reticulocytosis  (IAGP)
Schistocytosis  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Specific learning disability  (IAGP)
Splenomegaly  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thromboembolism  (IAGP)
Toenail dysplasia  (IAGP)
Varicose veins  (IAGP)
Webbed neck  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:9039502   PMID:9718354   PMID:10737800   PMID:14702039   PMID:15146197   PMID:16565220   PMID:16854388   PMID:17081983   PMID:18311491   PMID:18316326   PMID:20016066   PMID:20813920  
PMID:21056836   PMID:21299953   PMID:21696149   PMID:21873635   PMID:22529292   PMID:22790451   PMID:22792288   PMID:22810586   PMID:22939629   PMID:23222517   PMID:23479567   PMID:23487776  
PMID:23581886   PMID:23695678   PMID:23972840   PMID:24157948   PMID:24314002   PMID:24647736   PMID:24798994   PMID:25037583   PMID:25044010   PMID:25305018   PMID:25349416   PMID:25561736  
PMID:25666479   PMID:25927085   PMID:25955826   PMID:26001274   PMID:26001275   PMID:26186194   PMID:26333996   PMID:26351678   PMID:26387913   PMID:26439863   PMID:26496610   PMID:26646186  
PMID:26963637   PMID:26971963   PMID:27160899   PMID:27503909   PMID:27515482   PMID:27694883   PMID:27743844   PMID:27797339   PMID:28164706   PMID:28199303   PMID:28416610   PMID:28514442  
PMID:28619848   PMID:28698554   PMID:28716860   PMID:28905417   PMID:29065102   PMID:29117863   PMID:29191841   PMID:29210095   PMID:29330322   PMID:29507755   PMID:29509190   PMID:29545531  
PMID:29683214   PMID:29757938   PMID:29799007   PMID:29945412   PMID:30085186   PMID:30105803   PMID:30244526   PMID:30250223   PMID:30260030   PMID:30324494   PMID:30344046   PMID:30462693  
PMID:30480546   PMID:30628892   PMID:30655378   PMID:30741991   PMID:30745454   PMID:30867417   PMID:30885080   PMID:30916365   PMID:31290742   PMID:31298594   PMID:31322184   PMID:31340627  
PMID:31396578   PMID:31413092   PMID:31451220   PMID:31527615   PMID:31586031   PMID:31611621   PMID:31624108   PMID:31685811   PMID:31737919   PMID:31968259   PMID:31968281   PMID:32109669  
PMID:32112123   PMID:32152662   PMID:32265284   PMID:32323761   PMID:32481599   PMID:32526681   PMID:32579474   PMID:32675337   PMID:32697107   PMID:32826342   PMID:32959903   PMID:32985688  
PMID:32999349   PMID:33149214   PMID:33181827   PMID:33204718   PMID:33210711   PMID:33226641   PMID:33298523   PMID:33439514   PMID:33559992   PMID:33571427   PMID:33575334   PMID:33597646  
PMID:33610907   PMID:33628392   PMID:33636174   PMID:33649312   PMID:33657092   PMID:33658557   PMID:33690597   PMID:33809739   PMID:33813851   PMID:33848364   PMID:33957083   PMID:33961781  
PMID:33973227   PMID:33974928   PMID:34031557   PMID:34201899   PMID:34217619   PMID:34230590   PMID:34358671   PMID:34411418   PMID:34454425   PMID:34489534   PMID:34606042   PMID:34656527  
PMID:34669509   PMID:34781417   PMID:34913176   PMID:34979904   PMID:34985971   PMID:35082286   PMID:35139384   PMID:35151521   PMID:35173527   PMID:35181897   PMID:35274124   PMID:35283177  
PMID:35351580   PMID:35409116   PMID:35436566   PMID:35559724   PMID:35606793   PMID:35608274   PMID:35619555   PMID:35696571   PMID:35706029   PMID:35748872   PMID:35767143   PMID:35869052  
PMID:35907203   PMID:35941750   PMID:35968892   PMID:36047858   PMID:36112948   PMID:36122374   PMID:36181398   PMID:36208662   PMID:36266732   PMID:36400723   PMID:36453701   PMID:36526145  
PMID:36543525   PMID:36588342   PMID:36595486   PMID:36615408   PMID:36635063   PMID:36692267   PMID:36695705   PMID:36717101   PMID:36740831   PMID:37011913   PMID:37147884   PMID:37175575  
PMID:37213676   PMID:37227181   PMID:37247618   PMID:37259842   PMID:37261355   PMID:37267365   PMID:37268065   PMID:37366640   PMID:37582313   PMID:37629134   PMID:37632763   PMID:37714252  
PMID:37756411   PMID:37801988   PMID:37817199   PMID:37902181   PMID:37908726   PMID:37958687   PMID:37974224   PMID:37975162   PMID:38027192   PMID:38033286   PMID:38114441   PMID:38124148  
PMID:38132106   PMID:38134572   PMID:38184690   PMID:38254651   PMID:38279426   PMID:38334477   PMID:38338693   PMID:38393325   PMID:38395992   PMID:38412763   PMID:38467889   PMID:38494915  
PMID:38508350   PMID:38530239   PMID:38632473  


Genomics

Comparative Map Data
PIEZO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381688,715,338 - 88,785,220 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1688,715,338 - 88,785,220 (-)EnsemblGRCh38hg38GRCh38
GRCh371688,781,746 - 88,851,628 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,309,247 - 87,351,726 (-)NCBINCBI36Build 36hg18NCBI36
Build 341687,309,255 - 87,330,160NCBI
Celera1673,852,958 - 73,920,009 (-)NCBICelera
Cytogenetic Map16q24.3NCBI
HuRef1674,477,633 - 74,549,500 (-)NCBIHuRef
CHM1_11690,193,016 - 90,262,540 (-)NCBICHM1_1
T2T-CHM13v2.01694,785,806 - 94,856,736 (-)NCBIT2T-CHM13v2.0
Piezo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398123,208,437 - 123,278,068 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8123,208,437 - 123,278,068 (-)EnsemblGRCm39 Ensembl
GRCm388122,481,698 - 122,551,329 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8122,481,698 - 122,551,329 (-)EnsemblGRCm38mm10GRCm38
MGSCv378125,005,598 - 125,075,229 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368125,372,380 - 125,437,419 (-)NCBIMGSCv36mm8
Celera8126,710,730 - 126,780,760 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map871.31NCBI
Piezo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81967,453,120 - 67,515,347 (-)NCBIGRCr8
mRatBN7.21950,544,580 - 50,606,812 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1950,544,582 - 50,606,501 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1957,339,473 - 57,401,301 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01958,019,509 - 58,081,421 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01960,238,096 - 60,299,923 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01955,305,494 - 55,367,680 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1955,305,496 - 55,367,353 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01966,014,939 - 66,075,869 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41952,770,967 - 52,834,347 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11952,776,154 - 52,852,837 (-)NCBI
Celera1949,784,059 - 49,845,831 (-)NCBICelera
Cytogenetic Map19q12NCBI
Piezo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555412,618,438 - 2,643,771 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555412,618,167 - 2,655,349 (-)NCBIChiLan1.0ChiLan1.0
PIEZO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21898,488,560 - 98,558,324 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116104,400,502 - 104,470,495 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01669,428,461 - 69,498,454 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11689,088,323 - 89,143,463 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1689,088,323 - 89,125,068 (-)Ensemblpanpan1.1panPan2
PIEZO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1564,584,153 - 64,640,423 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl564,570,035 - 64,640,375 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha564,595,638 - 64,651,743 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0564,804,439 - 64,860,493 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl564,804,155 - 64,860,483 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1564,830,683 - 64,886,668 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0564,662,209 - 64,718,234 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0565,068,355 - 65,124,410 (+)NCBIUU_Cfam_GSD_1.0
Piezo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934925,178,700 - 25,226,974 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936641932,577 - 980,233 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936641932,291 - 980,440 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIEZO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6914,709 - 967,111 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16914,480 - 967,113 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2654,610,402 - 54,612,349 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIEZO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1574,100,675 - 74,167,194 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl574,100,929 - 74,134,167 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660471,512,166 - 1,579,247 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Piezo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624746821,726 - 871,481 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624746821,651 - 871,481 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIEZO1
1532 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001142864.4(PIEZO1):c.5544C>T (p.Val1848=) single nucleotide variant PIEZO1-related condition [RCV003925820]|not provided [RCV000936447] Chr16:88721290 [GRCh38]
Chr16:88787698 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4601G>A (p.Arg1534Gln) single nucleotide variant not provided [RCV000523522] Chr16:88722904 [GRCh38]
Chr16:88789312 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter) single nucleotide variant Lymphatic malformation 6 [RCV001029734]|not provided [RCV000519722] Chr16:88736671 [GRCh38]
Chr16:88803079 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001142864.4(PIEZO1):c.1558-10C>T single nucleotide variant not provided [RCV001507367] Chr16:88735256 [GRCh38]
Chr16:88801664 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2791-24C>A single nucleotide variant not provided [RCV001507359] Chr16:88732559 [GRCh38]
Chr16:88798967 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2176C>T (p.His726Tyr) single nucleotide variant PIEZO1-related condition [RCV003900752]|not provided [RCV001507364] Chr16:88734360 [GRCh38]
Chr16:88800768 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1126C>G (p.Pro376Ala) single nucleotide variant Familial hemolytic anemia [RCV000655923] Chr16:88737628 [GRCh38]
Chr16:88804036 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV000049231] Chr16:88716885 [GRCh38]
Chr16:88783293 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV000049232]|not provided [RCV001388579] Chr16:88715804 [GRCh38]
Chr16:88782212 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV000049233]|not provided [RCV000224939] Chr16:88720175 [GRCh38]
Chr16:88786583 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV000049234] Chr16:88725505 [GRCh38]
Chr16:88791913 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV000049236]|not provided [RCV001781379] Chr16:88719665 [GRCh38]
Chr16:88786073 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001142864.3(PIEZO1):c.7479_7484dupGGAGCT (p.Glu2496_Glu2497insLeuGlu) duplication Xerocytosis [RCV000049237] Chr16:88715687..88715692 [GRCh38]
Chr16:88782095..88782100 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1 copy number loss See cases [RCV000053380] Chr16:88640116..89530475 [GRCh38]
Chr16:88706524..89596883 [GRCh37]
Chr16:87234025..88124384 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1 copy number loss See cases [RCV000053381] Chr16:88662702..89454555 [GRCh38]
Chr16:88729110..89520963 [GRCh37]
Chr16:87256611..88048464 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 copy number loss See cases [RCV000053362] Chr16:87306529..89269079 [GRCh38]
Chr16:87340135..89335487 [GRCh37]
Chr16:85897636..87862988 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1 copy number loss See cases [RCV000053363] Chr16:88159660..89506042 [GRCh38]
Chr16:88193266..89572450 [GRCh37]
Chr16:86750767..88099951 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
NM_001142864.2(PIEZO1):c.3938A>C (p.Asp1313Ala) single nucleotide variant Malignant melanoma [RCV000071269] Chr16:88726314 [GRCh38]
Chr16:88792722 [GRCh37]
Chr16:87320223 [NCBI36]
Chr16:16q24.3		 not provided
NM_001142864.2(PIEZO1):c.3937G>T (p.Asp1313Tyr) single nucleotide variant Malignant melanoma [RCV000071270] Chr16:88726315 [GRCh38]
Chr16:88792723 [GRCh37]
Chr16:87320224 [NCBI36]
Chr16:16q24.3		 not provided
PIEZO1, E756DEL deletion Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV000664183] Chr16:16q24.3 pathogenic
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV000661912]|Inborn genetic diseases [RCV002530589]|Lymphatic malformation 6 [RCV000661913]|not provided [RCV002227195] Chr16:88731795 [GRCh38]
Chr16:88798203 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001012759.1(CTU2):c.804C>T (p.Cys268=) single nucleotide variant Malignant melanoma [RCV000071268] Chr16:88713378 [GRCh38]
Chr16:88779786 [GRCh37]
Chr16:87307287 [NCBI36]
Chr16:16q24.3		 not provided
NM_001142864.4(PIEZO1):c.2159G>A (p.Arg720His) single nucleotide variant not provided [RCV001638053] Chr16:88734377 [GRCh38]
Chr16:88800785 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=) single nucleotide variant not provided [RCV001812991] Chr16:88721215 [GRCh38]
Chr16:88787623 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2329+19G>A single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788449]|Lymphatic malformation 6 [RCV001788450]|not provided [RCV001619899] Chr16:88733887 [GRCh38]
Chr16:88800295 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) single nucleotide variant PIEZO1-related condition [RCV003908496]|not provided [RCV001812305] Chr16:88723932 [GRCh38]
Chr16:88790340 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1797C>G (p.Val599=) single nucleotide variant not provided [RCV001507366] Chr16:88734926 [GRCh38]
Chr16:88801334 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.19G>C (p.Gly7Arg) single nucleotide variant Lymphatic malformation 6 [RCV001331712] Chr16:88784946 [GRCh38]
Chr16:88851354 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5743C>G (p.Arg1915Gly) single nucleotide variant Lymphatic malformation 6 [RCV001331714] Chr16:88720674 [GRCh38]
Chr16:88787082 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6661-12T>G single nucleotide variant not provided [RCV001812420] Chr16:88716910 [GRCh38]
Chr16:88783318 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1365G>A (p.Thr455=) single nucleotide variant not provided [RCV001685346]|not specified [RCV001796419] Chr16:88736340 [GRCh38]
Chr16:88802748 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.7006C>T (p.Arg2336Trp) single nucleotide variant not provided [RCV001751546] Chr16:88716404 [GRCh38]
Chr16:88782812 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.910_912del (p.Leu304del) deletion not provided [RCV001810582] Chr16:88738042..88738044 [GRCh38]
Chr16:88804450..88804452 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5004G>A (p.Gly1668=) single nucleotide variant not provided [RCV000597189] Chr16:88722018 [GRCh38]
Chr16:88788426 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4235-233G>A single nucleotide variant not provided [RCV001564784] Chr16:88724204 [GRCh38]
Chr16:88790612 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2401C>T (p.Arg801Cys) single nucleotide variant Inborn genetic diseases [RCV004035719]|Lymphatic malformation 6 [RCV001331713] Chr16:88733674 [GRCh38]
Chr16:88800082 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1 copy number loss See cases [RCV000140351] Chr16:88662702..88719577 [GRCh38]
Chr16:88729110..88785985 [GRCh37]
Chr16:87256611..87313486 [NCBI36]
Chr16:16q24.2-24.3		 benign
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 copy number loss See cases [RCV000143624] Chr16:86950106..89335814 [GRCh38]
Chr16:86983712..89402222 [GRCh37]
Chr16:85541213..87929723 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258442] Chr16:88556191..89557911 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258457] Chr16:88630607..89607742 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258180] Chr16:88230961..89363602 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258201] Chr16:88666177..89472627 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258213] Chr16:88165980..88914268 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258230] Chr16:87183661..89520803 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258283] Chr16:88643461..89611494 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258300] Chr16:88755312..89584412 [GRCh37]
Chr16:16q24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258311] Chr16:88230760..89363742 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258380] Chr16:87340135..89335428 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6479C>T (p.Pro2160Leu) single nucleotide variant not provided [RCV000756481] Chr16:88717204 [GRCh38]
Chr16:88783612 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His) single nucleotide variant Inborn genetic diseases [RCV003243291]|PIEZO1-related condition [RCV003965561]|not provided [RCV000756478] Chr16:88736335 [GRCh38]
Chr16:88802743 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.3050T>C (p.Leu1017Pro) single nucleotide variant not provided [RCV000756486] Chr16:88731852 [GRCh38]
Chr16:88798260 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788342]|Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002507323]|Lymphatic malformation 6 [RCV001788343]|PIEZO1-related condition [RCV003918236]|not provided [RCV001573930] Chr16:88732461 [GRCh38]
Chr16:88798869 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4499G>A (p.Arg1500Gln) single nucleotide variant not provided [RCV000756482] Chr16:88723006 [GRCh38]
Chr16:88789414 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002493375]|not provided [RCV000756485] Chr16:88721282 [GRCh38]
Chr16:88787690 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4888G>T (p.Glu1630Ter) single nucleotide variant Lymphatic malformation 6 [RCV000208750] Chr16:88722285 [GRCh38]
Chr16:88788693 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.6682C>T (p.Gln2228Ter) single nucleotide variant Lymphatic malformation 6 [RCV000208759] Chr16:88716877 [GRCh38]
Chr16:88783285 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.1669+1G>A single nucleotide variant Lymphatic malformation 6 [RCV000208762] Chr16:88735134 [GRCh38]
Chr16:88801542 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.3796+1G>A single nucleotide variant Lymphatic malformation 6 [RCV000208768]|not provided [RCV003736641] Chr16:88726546 [GRCh38]
Chr16:88792954 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter) single nucleotide variant Lymphatic malformation 6 [RCV000208769] Chr16:88733972 [GRCh38]
Chr16:88800380 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.7289C>T (p.Pro2430Leu) single nucleotide variant Lymphatic malformation 6 [RCV000208773] Chr16:88715960 [GRCh38]
Chr16:88782368 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe) single nucleotide variant Lymphatic malformation 6 [RCV000208749] Chr16:88717172 [GRCh38]
Chr16:88783580 [GRCh37]
Chr16:16q24.3		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) single nucleotide variant Lymphatic malformation 6 [RCV000989648]|PIEZO1-related condition [RCV003977698]|not provided [RCV000756474]|not specified [RCV003320464] Chr16:88733731 [GRCh38]
Chr16:88800139 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His) single nucleotide variant PIEZO1-related condition [RCV003965562]|not provided [RCV001811463] Chr16:88733666 [GRCh38]
Chr16:88800074 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) single nucleotide variant PIEZO1-related condition [RCV003930019]|not provided [RCV001812665]|not specified [RCV000238715] Chr16:88736665 [GRCh38]
Chr16:88803073 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser) single nucleotide variant not provided [RCV000895429]|not specified [RCV000238978] Chr16:88720674 [GRCh38]
Chr16:88787082 [GRCh37]
Chr16:16q24.3		 benign|likely benign
GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3 copy number gain See cases [RCV000240062] Chr16:87687199..89304429 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1024_1028delinsGAGGC (p.Lys342_Glu343delinsGluAla) indel not specified [RCV000522301] Chr16:88737807..88737811 [GRCh38]
Chr16:88804215..88804219 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:88825321-88860473)x3 copy number gain See cases [RCV000240336] Chr16:88825321..88860473 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3 copy number gain See cases [RCV000240352] Chr16:88601532..89713753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6079G>A (p.Val2027Met) single nucleotide variant not provided [RCV000520777] Chr16:88720154 [GRCh38]
Chr16:88786562 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2035G>T (p.Glu679Ter) single nucleotide variant not provided [RCV000301777] Chr16:88734501 [GRCh38]
Chr16:88800909 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.4297C>A (p.Pro1433Thr) single nucleotide variant not provided [RCV002283038] Chr16:88723909 [GRCh38]
Chr16:88790317 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7550C>G (p.Thr2517Ser) single nucleotide variant not provided [RCV001573075] Chr16:88715621 [GRCh38]
Chr16:88782029 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3029G>A (p.Arg1010His) single nucleotide variant not provided [RCV003491360]|not specified [RCV003320510] Chr16:88731873 [GRCh38]
Chr16:88798281 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001270740]|not provided [RCV003235530] Chr16:88734026 [GRCh38]
Chr16:88800434 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3181C>G (p.Pro1061Ala) single nucleotide variant Inborn genetic diseases [RCV002527039]|not provided [RCV000490090]|not specified [RCV002465688] Chr16:88731721 [GRCh38]
Chr16:88798129 [GRCh37]
Chr16:16q24.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6854G>A (p.Arg2285His) single nucleotide variant Inborn genetic diseases [RCV003244673] Chr16:88716631 [GRCh38]
Chr16:88783039 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6969G>C (p.Lys2323Asn) single nucleotide variant not provided [RCV001760645] Chr16:88716441 [GRCh38]
Chr16:88782849 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2233CAG[4] (p.Gln749del) microsatellite not provided [RCV001692283] Chr16:88733988..88733990 [GRCh38]
Chr16:88800396..88800398 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5121G>C (p.Ser1707=) single nucleotide variant not provided [RCV000757606]|not specified [RCV001573923] Chr16:88721901 [GRCh38]
Chr16:88788309 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5838C>T (p.Phe1946=) single nucleotide variant not provided [RCV000757607] Chr16:88720496 [GRCh38]
Chr16:88786904 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6678C>T (p.Ser2226=) single nucleotide variant not provided [RCV001644797]|not specified [RCV001573344] Chr16:88716881 [GRCh38]
Chr16:88783289 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4754A>G (p.Asn1585Ser) single nucleotide variant not provided [RCV000757609] Chr16:88722604 [GRCh38]
Chr16:88789012 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) single nucleotide variant not provided [RCV000757610]|not specified [RCV003320210] Chr16:88715642 [GRCh38]
Chr16:88782050 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002507330]|not provided [RCV000757611] Chr16:88731773 [GRCh38]
Chr16:88798181 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6963C>T (p.Asn2321=) single nucleotide variant not provided [RCV000757613]|not specified [RCV001573269] Chr16:88716447 [GRCh38]
Chr16:88782855 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1387G>A (p.Ala463Thr) single nucleotide variant not provided [RCV001811475] Chr16:88736318 [GRCh38]
Chr16:88802726 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3206G>A (p.Trp1069Ter) single nucleotide variant Lymphatic malformation 6 [RCV000735788] Chr16:88727652 [GRCh38]
Chr16:88794060 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.6208A>C (p.Lys2070Gln) single nucleotide variant Lymphatic malformation 6 [RCV000735789] Chr16:88719917 [GRCh38]
Chr16:88786325 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC insertion not specified [RCV001001043] Chr16:88731922..88731923 [GRCh38]
Chr16:88798330..88798331 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3556G>A (p.Gly1186Arg) single nucleotide variant not specified [RCV001001108] Chr16:88726858 [GRCh38]
Chr16:88793266 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4495+13_4495+14insGCCCG insertion none provided [RCV001001848] Chr16:88723081..88723082 [GRCh38]
Chr16:88789489..88789490 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.4956-3T>C single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788215]|Lymphatic malformation 6 [RCV001788216]|not provided [RCV001810918]|not specified [RCV000428281] Chr16:88722069 [GRCh38]
Chr16:88788477 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5891T>A (p.Met1964Lys) single nucleotide variant not provided [RCV000442993] Chr16:88720443 [GRCh38]
Chr16:88786851 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7500C>T (p.Tyr2500=) single nucleotide variant not provided [RCV001810922]|not specified [RCV000419651] Chr16:88715671 [GRCh38]
Chr16:88782079 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3699G>A (p.Ser1233=) single nucleotide variant not provided [RCV000433825] Chr16:88726715 [GRCh38]
Chr16:88793123 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2431G>T (p.Glu811Ter) single nucleotide variant not provided [RCV000482266] Chr16:88733644 [GRCh38]
Chr16:88800052 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.3665A>G (p.Asn1222Ser) single nucleotide variant not provided [RCV000480143] Chr16:88726749 [GRCh38]
Chr16:88793157 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7493_7497dup (p.Tyr2500fs) duplication not provided [RCV000482536] Chr16:88715673..88715674 [GRCh38]
Chr16:88782081..88782082 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.2818G>A (p.Val940Ile) single nucleotide variant not provided [RCV000485304] Chr16:88732508 [GRCh38]
Chr16:88798916 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3940C>T (p.Leu1314Phe) single nucleotide variant not provided [RCV000485812] Chr16:88726312 [GRCh38]
Chr16:88792720 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) single nucleotide variant Lymphatic malformation 6 [RCV002272272]|PIEZO1-related condition [RCV003915442]|not provided [RCV000514720] Chr16:88726747 [GRCh38]
Chr16:88793155 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) microsatellite Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV000049237]|Lymphatic malformation 6 [RCV003444239]|not provided [RCV000485661] Chr16:88715682..88715683 [GRCh38]
Chr16:88782090..88782091 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.708C>A (p.Cys236Ter) single nucleotide variant not provided [RCV000479073] Chr16:88738367 [GRCh38]
Chr16:88804775 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.2420G>A (p.Arg807Gln) single nucleotide variant Inborn genetic diseases [RCV003243146]|not provided [RCV000483062] Chr16:88733655 [GRCh38]
Chr16:88800063 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1 copy number loss not provided [RCV000509325] Chr16:87219866..89561087 [GRCh37]
Chr16:16q24.2-24.3		 not provided
GRCh37/hg19 16q24.2-24.3(chr16:88104077-88958038)x3 copy number gain See cases [RCV000510568] Chr16:88104077..88958038 [GRCh37]
Chr16:16q24.2-24.3		 likely benign
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002490854]|not provided [RCV000965336] Chr16:88738647 [GRCh38]
Chr16:88805055 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) microsatellite Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788240]|Lymphatic malformation 6 [RCV001788241]|not provided [RCV001613332] Chr16:88721200..88721202 [GRCh38]
Chr16:88787608..88787610 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6390G>A (p.Thr2130=) single nucleotide variant not provided [RCV001653873]|not specified [RCV001572818] Chr16:88719655 [GRCh38]
Chr16:88786063 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788245]|Lymphatic malformation 6 [RCV001788246]|not provided [RCV001692158] Chr16:88736716 [GRCh38]
Chr16:88803124 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788260]|Lymphatic malformation 6 [RCV001788261]|not provided [RCV001683544] Chr16:88784902 [GRCh38]
Chr16:88851310 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.635-8C>T single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788254]|Lymphatic malformation 6 [RCV001788255]|not provided [RCV001709660] Chr16:88738448 [GRCh38]
Chr16:88804856 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2361G>C (p.Arg787=) single nucleotide variant not provided [RCV001595012]|not specified [RCV001573480] Chr16:88733714 [GRCh38]
Chr16:88800122 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) single nucleotide variant Inborn genetic diseases [RCV002527366]|PIEZO1-related condition [RCV003902810]|not provided [RCV000506188] Chr16:88738430 [GRCh38]
Chr16:88804838 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788266]|Lymphatic malformation 6 [RCV001788267]|not provided [RCV001810997] Chr16:88725639 [GRCh38]
Chr16:88792047 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1 copy number loss See cases [RCV000511455] Chr16:88116155..89524926 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.455C>T (p.Pro152Leu) single nucleotide variant not provided [RCV001613333] Chr16:88741488 [GRCh38]
Chr16:88807896 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) microsatellite Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002294339]|not provided [RCV001507362]|not specified [RCV001573929] Chr16:88733965..88733967 [GRCh38]
Chr16:88800373..88800375 [GRCh37]
Chr16:16q24.3		 pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788247]|Lymphatic malformation 6 [RCV001788248]|not provided [RCV001644568] Chr16:88716268 [GRCh38]
Chr16:88782676 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2031G>A (p.Val677=) single nucleotide variant not provided [RCV001692160] Chr16:88734505 [GRCh38]
Chr16:88800913 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788242]|Lymphatic malformation 6 [RCV001788243]|not provided [RCV001692157] Chr16:88721265 [GRCh38]
Chr16:88787673 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) single nucleotide variant not provided [RCV000506775]|not specified [RCV001700136] Chr16:88736178 [GRCh38]
Chr16:88802586 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3969-5T>C single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788251]|Lymphatic malformation 6 [RCV001788252]|not provided [RCV001692159] Chr16:88725689 [GRCh38]
Chr16:88792097 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) single nucleotide variant not provided [RCV000506956]|not specified [RCV003493612] Chr16:88716580 [GRCh38]
Chr16:88782988 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788262]|Lymphatic malformation 6 [RCV001788263]|not provided [RCV001672819] Chr16:88717113 [GRCh38]
Chr16:88783521 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.2-24.3(chr16:88445490-89319419)x3 copy number gain See cases [RCV000511531] Chr16:88445490..89319419 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.465+8C>T single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788256]|Lymphatic malformation 6 [RCV001788257]|not provided [RCV001712473] Chr16:88741470 [GRCh38]
Chr16:88807878 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) single nucleotide variant not provided [RCV001573295]|not specified [RCV001701024] Chr16:88737941 [GRCh38]
Chr16:88804349 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788268]|Lymphatic malformation 6 [RCV001788269]|not provided [RCV001712571] Chr16:88737574 [GRCh38]
Chr16:88803982 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788238]|Lymphatic malformation 6 [RCV001788239]|not provided [RCV001712471] Chr16:88716692 [GRCh38]
Chr16:88783100 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5513C>T (p.Thr1838Ile) single nucleotide variant not provided [RCV000492977] Chr16:88721321 [GRCh38]
Chr16:88787729 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788253]|Lymphatic malformation 6 [RCV000989649]|not provided [RCV001653871] Chr16:88738326 [GRCh38]
Chr16:88804734 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1674C>T (p.Pro558=) single nucleotide variant not provided [RCV001644569]|not specified [RCV001573467] Chr16:88735049 [GRCh38]
Chr16:88801457 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788249]|Lymphatic malformation 6 [RCV001788250]|not provided [RCV001540561] Chr16:88717041 [GRCh38]
Chr16:88783449 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2790+10A>G single nucleotide variant not provided [RCV001618719]|not specified [RCV001573567] Chr16:88732597 [GRCh38]
Chr16:88799005 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788244]|Lymphatic malformation 6 [RCV000989647]|not provided [RCV001712472] Chr16:88725050 [GRCh38]
Chr16:88791458 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2608A>G (p.Met870Val) single nucleotide variant not provided [RCV000493270] Chr16:88733334 [GRCh38]
Chr16:88799742 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val) single nucleotide variant not provided [RCV000508064] Chr16:88738357 [GRCh38]
Chr16:88804765 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7362C>T (p.Phe2454=) single nucleotide variant not provided [RCV001653872] Chr16:88715809 [GRCh38]
Chr16:88782217 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788258]|Lymphatic malformation 6 [RCV001788259]|not provided [RCV001712570] Chr16:88742335 [GRCh38]
Chr16:88808743 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788264]|Lymphatic malformation 6 [RCV001788265]|not provided [RCV001810996] Chr16:88721296 [GRCh38]
Chr16:88787704 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.1117C>T (p.Pro373Ser) single nucleotide variant Inborn genetic diseases [RCV003273532] Chr16:88737637 [GRCh38]
Chr16:88804045 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_001142864.4(PIEZO1):c.3361A>G (p.Thr1121Ala) single nucleotide variant Inborn genetic diseases [RCV003277800] Chr16:88727133 [GRCh38]
Chr16:88793541 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5282G>C (p.Arg1761Pro) single nucleotide variant Inborn genetic diseases [RCV003246645] Chr16:88721659 [GRCh38]
Chr16:88788067 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1529G>A (p.Arg510His) single nucleotide variant Inborn genetic diseases [RCV003302596] Chr16:88736176 [GRCh38]
Chr16:88802584 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6582G>A (p.Met2194Ile) single nucleotide variant Inborn genetic diseases [RCV003302633] Chr16:88717101 [GRCh38]
Chr16:88783509 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6511G>A (p.Val2171Ile) single nucleotide variant Inborn genetic diseases [RCV003302359] Chr16:88717172 [GRCh38]
Chr16:88783580 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4826G>A (p.Ser1609Asn) single nucleotide variant Inborn genetic diseases [RCV003275433] Chr16:88722347 [GRCh38]
Chr16:88788755 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2189C>T (p.Ala730Val) single nucleotide variant Inborn genetic diseases [RCV003285456] Chr16:88734046 [GRCh38]
Chr16:88800454 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5911G>A (p.Asp1971Asn) single nucleotide variant Inborn genetic diseases [RCV003293822]|PIEZO1-related condition [RCV003396988] Chr16:88720423 [GRCh38]
Chr16:88786831 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1889G>T (p.Trp630Leu) single nucleotide variant Inborn genetic diseases [RCV003256340] Chr16:88734758 [GRCh38]
Chr16:88801166 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3712G>A (p.Val1238Ile) single nucleotide variant Inborn genetic diseases [RCV003240792]|not provided [RCV003730482] Chr16:88726631 [GRCh38]
Chr16:88793039 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.640G>A (p.Ala214Thr) single nucleotide variant Congenital isolated adrenocorticotropic hormone deficiency [RCV003225095]|Inborn genetic diseases [RCV004024763]|not provided [RCV000594190] Chr16:88738435 [GRCh38]
Chr16:88804843 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.593C>T (p.Ala198Val) single nucleotide variant Inborn genetic diseases [RCV003272720] Chr16:88738609 [GRCh38]
Chr16:88805017 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6556A>G (p.Ile2186Val) single nucleotide variant Inborn genetic diseases [RCV003249809] Chr16:88717127 [GRCh38]
Chr16:88783535 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6214A>G (p.Ile2072Val) single nucleotide variant Inborn genetic diseases [RCV003240263] Chr16:88719911 [GRCh38]
Chr16:88786319 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) single nucleotide variant not provided [RCV000597300] Chr16:88715790 [GRCh38]
Chr16:88782198 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_001142864.4(PIEZO1):c.7414C>T (p.Pro2472Ser) single nucleotide variant not provided [RCV000658352] Chr16:88715757 [GRCh38]
Chr16:88782165 [GRCh37]
Chr16:16q24.3		 uncertain significance
Single allele deletion not provided [RCV000677910] Chr16:86890893..89398630 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3 copy number gain not provided [RCV000709990] Chr16:88317240..89079407 [GRCh37]
Chr16:16q24.2-24.3		 not provided
NM_001142864.4(PIEZO1):c.4770G>A (p.Val1590=) single nucleotide variant not provided [RCV001811574] Chr16:88722588 [GRCh38]
Chr16:88788996 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4997C>T (p.Ala1666Val) single nucleotide variant not provided [RCV001811575] Chr16:88722025 [GRCh38]
Chr16:88788433 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys) single nucleotide variant not provided [RCV001368417]|not specified [RCV001000920] Chr16:88726603 [GRCh38]
Chr16:88793011 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6421G>A (p.Asp2141Asn) single nucleotide variant not provided [RCV003490003]|not specified [RCV001000994] Chr16:88719624 [GRCh38]
Chr16:88786032 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5461G>A (p.Gly1821Ser) single nucleotide variant not provided [RCV001811604] Chr16:88721373 [GRCh38]
Chr16:88787781 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4211G>C (p.Arg1404Pro) single nucleotide variant Inborn genetic diseases [RCV003307796]|not specified [RCV001001974] Chr16:88725032 [GRCh38]
Chr16:88791440 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5068C>T (p.Leu1690Phe) single nucleotide variant not specified [RCV001002042] Chr16:88721954 [GRCh38]
Chr16:88788362 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002488373]|not provided [RCV001551676]|not specified [RCV001699815] Chr16:88721827 [GRCh38]
Chr16:88788235 [GRCh37]
Chr16:16q24.3		 benign|likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.4495+10_4495+14dup duplication not provided [RCV001730275] Chr16:88723080..88723081 [GRCh38]
Chr16:88789488..88789489 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4371G>A (p.Ala1457=) single nucleotide variant not provided [RCV000959947] Chr16:88723293 [GRCh38]
Chr16:88789701 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7218C>T (p.Ile2406=) single nucleotide variant not provided [RCV001531859] Chr16:88716031 [GRCh38]
Chr16:88782439 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4775+88A>C single nucleotide variant not provided [RCV001666826] Chr16:88722495 [GRCh38]
Chr16:88788903 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3302-21G>A single nucleotide variant not provided [RCV001678725] Chr16:88727213 [GRCh38]
Chr16:88793621 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4439-8G>T single nucleotide variant PIEZO1-related condition [RCV003978403]|not provided [RCV000963347] Chr16:88723159 [GRCh38]
Chr16:88789567 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp) single nucleotide variant not provided [RCV001751545] Chr16:88721187 [GRCh38]
Chr16:88787595 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6211T>C (p.Cys2071Arg) single nucleotide variant Lymphatic malformation 6 [RCV001533181] Chr16:88719914 [GRCh38]
Chr16:88786322 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6007G>A (p.Ala2003Thr) single nucleotide variant not provided [RCV001812386] Chr16:88720226 [GRCh38]
Chr16:88786634 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3523T>G (p.Phe1175Val) single nucleotide variant PIEZO1-related condition [RCV003938598]|not provided [RCV001812411] Chr16:88726891 [GRCh38]
Chr16:88793299 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2991+25C>T single nucleotide variant not provided [RCV001690289] Chr16:88732310 [GRCh38]
Chr16:88798718 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4956-70C>T single nucleotide variant not provided [RCV001709003] Chr16:88722136 [GRCh38]
Chr16:88788544 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3700-18_3700-17insGCCCCGCTG insertion none provided [RCV001286760] Chr16:88726660..88726661 [GRCh38]
Chr16:88793068..88793069 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2130C>T (p.Asp710=) single nucleotide variant not provided [RCV001539875] Chr16:88734406 [GRCh38]
Chr16:88800814 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3196+188T>C single nucleotide variant not provided [RCV001610268] Chr16:88731518 [GRCh38]
Chr16:88797926 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1195+35C>T single nucleotide variant not provided [RCV001583658] Chr16:88737524 [GRCh38]
Chr16:88803932 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4190C>T (p.Pro1397Leu) single nucleotide variant Inborn genetic diseases [RCV004029683]|PIEZO1-related condition [RCV003978112]|not provided [RCV000939141] Chr16:88725053 [GRCh38]
Chr16:88791461 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.160+265dup duplication not provided [RCV001565652] Chr16:88749118..88749119 [GRCh38]
Chr16:88815526..88815527 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.465+156G>A single nucleotide variant not provided [RCV001725330] Chr16:88741322 [GRCh38]
Chr16:88807730 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.64+269G>A single nucleotide variant not provided [RCV001679321] Chr16:88784632 [GRCh38]
Chr16:88851040 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.10:g.88785260T>G single nucleotide variant not provided [RCV001535119] Chr16:88785260 [GRCh38]
Chr16:88851668 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5442C>T (p.Ser1814=) single nucleotide variant not provided [RCV000895029] Chr16:88721392 [GRCh38]
Chr16:88787800 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.954C>T (p.Val318=) single nucleotide variant not provided [RCV001573245] Chr16:88738000 [GRCh38]
Chr16:88804408 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4668+67C>T single nucleotide variant not provided [RCV001535373] Chr16:88722770 [GRCh38]
Chr16:88789178 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5413C>T (p.Leu1805Phe) single nucleotide variant PIEZO1-related condition [RCV003922849]|not provided [RCV000895322] Chr16:88721421 [GRCh38]
Chr16:88787829 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6891C>T (p.Ala2297=) single nucleotide variant not provided [RCV000895361]|not specified [RCV001701242] Chr16:88716594 [GRCh38]
Chr16:88783002 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.666C>T (p.Val222=) single nucleotide variant not provided [RCV000914411] Chr16:88738409 [GRCh38]
Chr16:88804817 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.327-87A>G single nucleotide variant not provided [RCV001666690] Chr16:88741703 [GRCh38]
Chr16:88808111 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1997+56G>A single nucleotide variant not provided [RCV001610876] Chr16:88734594 [GRCh38]
Chr16:88801002 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) single nucleotide variant PIEZO1-related condition [RCV003967674]|not provided [RCV000756475]|not specified [RCV003320463] Chr16:88733652 [GRCh38]
Chr16:88800060 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) single nucleotide variant Inborn genetic diseases [RCV003303228]|PIEZO1-related condition [RCV003908067]|not provided [RCV000756483] Chr16:88723954 [GRCh38]
Chr16:88790362 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1105C>T (p.Gln369Ter) single nucleotide variant not provided [RCV000760794] Chr16:88737730 [GRCh38]
Chr16:88804138 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.3301+93A>G single nucleotide variant not provided [RCV001669379] Chr16:88727464 [GRCh38]
Chr16:88793872 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5101G>A (p.Val1701Ile) single nucleotide variant not provided [RCV003238981] Chr16:88721921 [GRCh38]
Chr16:88788329 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.160+144del deletion not provided [RCV001570127] Chr16:88749240 [GRCh38]
Chr16:88815648 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile) single nucleotide variant Inborn genetic diseases [RCV004039398]|not provided [RCV001573116] Chr16:88736210 [GRCh38]
Chr16:88802618 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.326+150A>G single nucleotide variant not provided [RCV001547076] Chr16:88741903 [GRCh38]
Chr16:88808311 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3968+163C>T single nucleotide variant not provided [RCV001566686] Chr16:88726121 [GRCh38]
Chr16:88792529 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu) single nucleotide variant not provided [RCV000756480] Chr16:88736258 [GRCh38]
Chr16:88802666 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5390G>A (p.Arg1797His) single nucleotide variant Inborn genetic diseases [RCV002536561]|not provided [RCV000756484] Chr16:88721551 [GRCh38]
Chr16:88787959 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3797-33_3797-27dup duplication not provided [RCV001578084] Chr16:88726481..88726482 [GRCh38]
Chr16:88792889..88792890 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.160+176G>C single nucleotide variant not provided [RCV001586205] Chr16:88749208 [GRCh38]
Chr16:88815616 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.3(chr16:88713533-88799238)x1 copy number loss not provided [RCV000751821] Chr16:88713533..88799238 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88770621-88812250)x3 copy number gain not provided [RCV000751822] Chr16:88770621..88812250 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88773893-88812250)x1 copy number loss not provided [RCV000751823] Chr16:88773893..88812250 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88787052-88804765)x3 copy number gain not provided [RCV000751824] Chr16:88787052..88804765 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88787052-88877960)x3 copy number gain not provided [RCV000751825] Chr16:88787052..88877960 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88788235-88804365)x1 copy number loss not provided [RCV000751826] Chr16:88788235..88804365 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88799238-88830836)x1 copy number loss not provided [RCV000751827] Chr16:88799238..88830836 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88822747-88849421)x1 copy number loss not provided [RCV000751828] Chr16:88822747..88849421 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88847681-88880480)x3 copy number gain not provided [RCV000751829] Chr16:88847681..88880480 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4162+121C>T single nucleotide variant not provided [RCV001612867] Chr16:88725295 [GRCh38]
Chr16:88791703 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88851102-88880480)x1 copy number loss not provided [RCV000751830] Chr16:88851102..88880480 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:88851102-88891026)x1 copy number loss not provided [RCV000751831] Chr16:88851102..88891026 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6472-284T>C single nucleotide variant not provided [RCV001648886] Chr16:88717495 [GRCh38]
Chr16:88783903 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2730C>T (p.Pro910=) single nucleotide variant PIEZO1-related condition [RCV003960464]|not provided [RCV000927956] Chr16:88732667 [GRCh38]
Chr16:88799075 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.180G>A (p.Leu60=) single nucleotide variant not provided [RCV000927957] Chr16:88742403 [GRCh38]
Chr16:88808811 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4674C>T (p.Gly1558=) single nucleotide variant not provided [RCV000906646] Chr16:88722684 [GRCh38]
Chr16:88789092 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5148G>T (p.Leu1716=) single nucleotide variant PIEZO1-related condition [RCV003903222]|not provided [RCV000951332] Chr16:88721874 [GRCh38]
Chr16:88788282 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3171G>C (p.Leu1057=) single nucleotide variant not provided [RCV000982758] Chr16:88731731 [GRCh38]
Chr16:88798139 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3797-7C>T single nucleotide variant not provided [RCV000943299] Chr16:88726462 [GRCh38]
Chr16:88792870 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2655C>T (p.Asn885=) single nucleotide variant not provided [RCV000901580] Chr16:88733287 [GRCh38]
Chr16:88799695 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) single nucleotide variant Inborn genetic diseases [RCV002548351]|PIEZO1-related condition [RCV003918448]|not provided [RCV000970895] Chr16:88726550 [GRCh38]
Chr16:88792958 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.190C>T (p.Leu64=) single nucleotide variant not provided [RCV000922815] Chr16:88742393 [GRCh38]
Chr16:88808801 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5280G>T (p.Leu1760=) single nucleotide variant not provided [RCV000900666] Chr16:88721661 [GRCh38]
Chr16:88788069 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7240G>A (p.Asp2414Asn) single nucleotide variant not provided [RCV000880696] Chr16:88716009 [GRCh38]
Chr16:88782417 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5215-5C>G single nucleotide variant not provided [RCV000903348] Chr16:88721731 [GRCh38]
Chr16:88788139 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7530G>A (p.Pro2510=) single nucleotide variant not provided [RCV000972317] Chr16:88715641 [GRCh38]
Chr16:88782049 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.7194C>T (p.Thr2398=) single nucleotide variant not provided [RCV000972318] Chr16:88716055 [GRCh38]
Chr16:88782463 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5769C>T (p.Ala1923=) single nucleotide variant not provided [RCV000972319] Chr16:88720648 [GRCh38]
Chr16:88787056 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5115C>T (p.Ala1705=) single nucleotide variant not provided [RCV000906066] Chr16:88721907 [GRCh38]
Chr16:88788315 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.987G>T (p.Leu329=) single nucleotide variant not provided [RCV000903137] Chr16:88737967 [GRCh38]
Chr16:88804375 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5121G>T (p.Ser1707=) single nucleotide variant not provided [RCV000914484] Chr16:88721901 [GRCh38]
Chr16:88788309 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4713C>T (p.Ser1571=) single nucleotide variant PIEZO1-related condition [RCV003913113]|not provided [RCV000924045] Chr16:88722645 [GRCh38]
Chr16:88789053 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6219C>T (p.Tyr2073=) single nucleotide variant not provided [RCV000949998] Chr16:88719906 [GRCh38]
Chr16:88786314 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6164+10C>T single nucleotide variant PIEZO1-related condition [RCV003955871]|not provided [RCV000883833] Chr16:88720059 [GRCh38]
Chr16:88786467 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1656C>T (p.Thr552=) single nucleotide variant not provided [RCV000980936] Chr16:88735148 [GRCh38]
Chr16:88801556 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5404-10C>T single nucleotide variant not provided [RCV000924069] Chr16:88721440 [GRCh38]
Chr16:88787848 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2907C>T (p.Ser969=) single nucleotide variant PIEZO1-related condition [RCV003960435]|not provided [RCV000924947] Chr16:88732419 [GRCh38]
Chr16:88798827 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5401C>T (p.Leu1801=) single nucleotide variant not provided [RCV000936692] Chr16:88721540 [GRCh38]
Chr16:88787948 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.825C>G (p.Leu275=) single nucleotide variant not provided [RCV000919939] Chr16:88738250 [GRCh38]
Chr16:88804658 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2689C>T (p.Leu897=) single nucleotide variant not provided [RCV000892303] Chr16:88732708 [GRCh38]
Chr16:88799116 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1297-6G>A single nucleotide variant not provided [RCV000966403] Chr16:88736414 [GRCh38]
Chr16:88802822 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1281G>A (p.Ala427=) single nucleotide variant not provided [RCV000966404] Chr16:88736654 [GRCh38]
Chr16:88803062 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1072C>T (p.Leu358=) single nucleotide variant not provided [RCV000966405] Chr16:88737763 [GRCh38]
Chr16:88804171 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4695G>C (p.Leu1565=) single nucleotide variant not provided [RCV000900917] Chr16:88722663 [GRCh38]
Chr16:88789071 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4496-8T>A single nucleotide variant PIEZO1-related condition [RCV003978070]|not provided [RCV000928147] Chr16:88723017 [GRCh38]
Chr16:88789425 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6822C>T (p.Ser2274=) single nucleotide variant not provided [RCV000906235] Chr16:88716663 [GRCh38]
Chr16:88783071 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln) single nucleotide variant not provided [RCV000879327]|not specified [RCV001701341] Chr16:88723279 [GRCh38]
Chr16:88789687 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2496G>A (p.Val832=) single nucleotide variant not provided [RCV000883386] Chr16:88733446 [GRCh38]
Chr16:88799854 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2157G>A (p.Thr719=) single nucleotide variant not provided [RCV000915048] Chr16:88734379 [GRCh38]
Chr16:88800787 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala) single nucleotide variant Inborn genetic diseases [RCV004027129]|not provided [RCV000756476] Chr16:88727060 [GRCh38]
Chr16:88793468 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6657T>C (p.Tyr2219=) single nucleotide variant not provided [RCV000881969] Chr16:88717026 [GRCh38]
Chr16:88783434 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4719C>T (p.Ala1573=) single nucleotide variant PIEZO1-related condition [RCV003908401]|not provided [RCV000880052] Chr16:88722639 [GRCh38]
Chr16:88789047 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6297T>C (p.Asn2099=) single nucleotide variant not provided [RCV000879463] Chr16:88719828 [GRCh38]
Chr16:88786236 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6933G>A (p.Leu2311=) single nucleotide variant not provided [RCV000983487] Chr16:88716477 [GRCh38]
Chr16:88782885 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4023G>A (p.Arg1341=) single nucleotide variant PIEZO1-related condition [RCV003913135]|not provided [RCV000927158] Chr16:88725630 [GRCh38]
Chr16:88792038 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.284-4G>A single nucleotide variant PIEZO1-related condition [RCV003913171]|not provided [RCV000937871] Chr16:88742099 [GRCh38]
Chr16:88808507 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3387C>T (p.Gly1129=) single nucleotide variant not provided [RCV000925407] Chr16:88727107 [GRCh38]
Chr16:88793515 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1128C>G (p.Pro376=) single nucleotide variant not provided [RCV000929029] Chr16:88737626 [GRCh38]
Chr16:88804034 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6423C>T (p.Asp2141=) single nucleotide variant not provided [RCV000903103] Chr16:88719622 [GRCh38]
Chr16:88786030 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5721G>T (p.Thr1907=) single nucleotide variant not provided [RCV000905436] Chr16:88720696 [GRCh38]
Chr16:88787104 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002479007]|PIEZO1-related condition [RCV003955881]|not provided [RCV000884750] Chr16:88722030 [GRCh38]
Chr16:88788438 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3636C>T (p.Leu1212=) single nucleotide variant not provided [RCV000884751] Chr16:88726778 [GRCh38]
Chr16:88793186 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met) single nucleotide variant Inborn genetic diseases [RCV002540175]|PIEZO1-related condition [RCV003958104]|not provided [RCV000898908] Chr16:88735035 [GRCh38]
Chr16:88801443 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.948C>T (p.Pro316=) single nucleotide variant not provided [RCV000923752] Chr16:88738006 [GRCh38]
Chr16:88804414 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) single nucleotide variant PIEZO1-related condition [RCV003910387]|not provided [RCV000881409] Chr16:88720723 [GRCh38]
Chr16:88787131 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.2421G>C (p.Arg807=) single nucleotide variant not provided [RCV000881410] Chr16:88733654 [GRCh38]
Chr16:88800062 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1683G>A (p.Thr561=) single nucleotide variant not provided [RCV000900035] Chr16:88735040 [GRCh38]
Chr16:88801448 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.690C>T (p.Leu230=) single nucleotide variant not provided [RCV000899086] Chr16:88738385 [GRCh38]
Chr16:88804793 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2991+12A>G single nucleotide variant not provided [RCV001573035]|not specified [RCV001700731] Chr16:88732323 [GRCh38]
Chr16:88798731 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2664+12C>G single nucleotide variant not provided [RCV001685348]|not specified [RCV001573824] Chr16:88733266 [GRCh38]
Chr16:88799674 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4009G>A (p.Asp1337Asn) single nucleotide variant not provided [RCV001813105] Chr16:88725644 [GRCh38]
Chr16:88792052 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2463C>T (p.Tyr821=) single nucleotide variant not provided [RCV000977982] Chr16:88733612 [GRCh38]
Chr16:88800020 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.65-4G>A single nucleotide variant not provided [RCV000917060] Chr16:88749483 [GRCh38]
Chr16:88815891 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4388AGCAGG[4] (p.1465EQ[3]) microsatellite not provided [RCV000948443] Chr16:88723258..88723259 [GRCh38]
Chr16:88789666..88789667 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) single nucleotide variant PIEZO1-related condition [RCV003903126]|not provided [RCV000939246] Chr16:88720270 [GRCh38]
Chr16:88786678 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1791C>T (p.Leu597=) single nucleotide variant not provided [RCV000895615] Chr16:88734932 [GRCh38]
Chr16:88801340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5718C>T (p.Pro1906=) single nucleotide variant not provided [RCV000917693] Chr16:88720699 [GRCh38]
Chr16:88787107 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.997C>T (p.Arg333Cys) single nucleotide variant not provided [RCV000879833] Chr16:88737957 [GRCh38]
Chr16:88804365 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6792C>T (p.Asp2264=) single nucleotide variant not provided [RCV000910429] Chr16:88716693 [GRCh38]
Chr16:88783101 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5011C>A (p.Arg1671=) single nucleotide variant not provided [RCV000938688] Chr16:88722011 [GRCh38]
Chr16:88788419 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7389G>A (p.Ser2463=) single nucleotide variant not provided [RCV000942636] Chr16:88715782 [GRCh38]
Chr16:88782190 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6903G>A (p.Leu2301=) single nucleotide variant not provided [RCV000895428] Chr16:88716582 [GRCh38]
Chr16:88782990 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6927G>A (p.Arg2309=) single nucleotide variant not provided [RCV000939946] Chr16:88716483 [GRCh38]
Chr16:88782891 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4290G>C (p.Glu1430Asp) single nucleotide variant not provided [RCV000981857] Chr16:88723916 [GRCh38]
Chr16:88790324 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1196-9C>T single nucleotide variant not provided [RCV000900328] Chr16:88736748 [GRCh38]
Chr16:88803156 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5283G>A (p.Arg1761=) single nucleotide variant PIEZO1-related condition [RCV003977935]|not provided [RCV000907125] Chr16:88721658 [GRCh38]
Chr16:88788066 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2664+8C>T single nucleotide variant not provided [RCV000930852] Chr16:88733270 [GRCh38]
Chr16:88799678 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1647G>A (p.Thr549=) single nucleotide variant not provided [RCV000893165] Chr16:88735157 [GRCh38]
Chr16:88801565 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=) single nucleotide variant PIEZO1-related condition [RCV003926180]|not provided [RCV000962440] Chr16:88735021 [GRCh38]
Chr16:88801429 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.999C>T (p.Arg333=) single nucleotide variant not provided [RCV000943209] Chr16:88737955 [GRCh38]
Chr16:88804363 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4336-5G>C single nucleotide variant not provided [RCV000930933] Chr16:88723333 [GRCh38]
Chr16:88789741 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.748G>A (p.Val250Ile) single nucleotide variant not provided [RCV000961370] Chr16:88738327 [GRCh38]
Chr16:88804735 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) single nucleotide variant PIEZO1-related condition [RCV003960722]|not provided [RCV000962566] Chr16:88737969 [GRCh38]
Chr16:88804377 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1251C>T (p.His417=) single nucleotide variant not provided [RCV000903114] Chr16:88736684 [GRCh38]
Chr16:88803092 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2742C>A (p.Ala914=) single nucleotide variant PIEZO1-related condition [RCV003920843]|not provided [RCV000896186] Chr16:88732655 [GRCh38]
Chr16:88799063 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5163G>A (p.Ser1721=) single nucleotide variant not provided [RCV000938081] Chr16:88721859 [GRCh38]
Chr16:88788267 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1806T>C (p.Ile602=) single nucleotide variant not provided [RCV000921069] Chr16:88734917 [GRCh38]
Chr16:88801325 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7317-5C>T single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002495448]|not provided [RCV000900445] Chr16:88715859 [GRCh38]
Chr16:88782267 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4506T>C (p.His1502=) single nucleotide variant not provided [RCV000914848] Chr16:88722999 [GRCh38]
Chr16:88789407 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1641G>A (p.Ala547=) single nucleotide variant not provided [RCV000918662] Chr16:88735163 [GRCh38]
Chr16:88801571 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2469C>T (p.Val823=) single nucleotide variant not provided [RCV000979684] Chr16:88733606 [GRCh38]
Chr16:88800014 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7130-5C>A single nucleotide variant PIEZO1-related condition [RCV003943125]|not provided [RCV000963148] Chr16:88716124 [GRCh38]
Chr16:88782532 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His) single nucleotide variant PIEZO1-related condition [RCV003912832]|not provided [RCV000898907]|not specified [RCV001572652] Chr16:88722925 [GRCh38]
Chr16:88789333 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6164+3G>A single nucleotide variant not provided [RCV000924317] Chr16:88720066 [GRCh38]
Chr16:88786474 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6231C>T (p.Ser2077=) single nucleotide variant not provided [RCV000896332] Chr16:88719894 [GRCh38]
Chr16:88786302 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3813C>T (p.Asp1271=) single nucleotide variant not provided [RCV000897488] Chr16:88726439 [GRCh38]
Chr16:88792847 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5886C>T (p.Ala1962=) single nucleotide variant not provided [RCV000896590] Chr16:88720448 [GRCh38]
Chr16:88786856 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) single nucleotide variant PIEZO1-related condition [RCV003920602]|not provided [RCV000884095] Chr16:88715745 [GRCh38]
Chr16:88782153 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1465C>G (p.Arg489Gly) single nucleotide variant not provided [RCV000879412] Chr16:88736240 [GRCh38]
Chr16:88802648 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4737C>A (p.Gly1579=) single nucleotide variant not provided [RCV000895323] Chr16:88722621 [GRCh38]
Chr16:88789029 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met) single nucleotide variant Inborn genetic diseases [RCV004028474]|PIEZO1-related condition [RCV003920857]|not provided [RCV000897670] Chr16:88749450 [GRCh38]
Chr16:88815858 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5310G>A (p.Pro1770=) single nucleotide variant not provided [RCV000922355] Chr16:88721631 [GRCh38]
Chr16:88788039 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5112C>T (p.Ser1704=) single nucleotide variant not provided [RCV000927334] Chr16:88721910 [GRCh38]
Chr16:88788318 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1199G>A (p.Arg400Gln) single nucleotide variant not provided [RCV000972910] Chr16:88736736 [GRCh38]
Chr16:88803144 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6249C>T (p.Cys2083=) single nucleotide variant not provided [RCV000916388] Chr16:88719876 [GRCh38]
Chr16:88786284 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002489358]|not provided [RCV000961368] Chr16:88719831 [GRCh38]
Chr16:88786239 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3456-10G>A single nucleotide variant not provided [RCV000967427] Chr16:88726968 [GRCh38]
Chr16:88793376 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5853C>T (p.His1951=) single nucleotide variant not provided [RCV000947734] Chr16:88720481 [GRCh38]
Chr16:88786889 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr) single nucleotide variant Inborn genetic diseases [RCV002547250]|not provided [RCV000954300] Chr16:88723301 [GRCh38]
Chr16:88789709 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6651C>A (p.Gly2217=) single nucleotide variant not provided [RCV000963507]|not specified [RCV001573645] Chr16:88717032 [GRCh38]
Chr16:88783440 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) single nucleotide variant PIEZO1-related condition [RCV003910371]|not provided [RCV000880446] Chr16:88720506 [GRCh38]
Chr16:88786914 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6828G>A (p.Ala2276=) single nucleotide variant not provided [RCV000924575] Chr16:88716657 [GRCh38]
Chr16:88783065 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) single nucleotide variant PIEZO1-related condition [RCV003940438]|not provided [RCV000881821]|not specified [RCV001701344] Chr16:88715666 [GRCh38]
Chr16:88782074 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.2992-7T>C single nucleotide variant not provided [RCV000905054] Chr16:88731917 [GRCh38]
Chr16:88798325 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1014C>T (p.Ser338=) single nucleotide variant not provided [RCV000906460] Chr16:88737940 [GRCh38]
Chr16:88804348 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4386G>A (p.Arg1462=) single nucleotide variant not provided [RCV000932511] Chr16:88723278 [GRCh38]
Chr16:88789686 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3042G>A (p.Leu1014=) single nucleotide variant not provided [RCV000932512] Chr16:88731860 [GRCh38]
Chr16:88798268 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3969-8C>T single nucleotide variant not provided [RCV000899735] Chr16:88725692 [GRCh38]
Chr16:88792100 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.669C>T (p.Tyr223=) single nucleotide variant PIEZO1-related condition [RCV003943016]|not provided [RCV000949593] Chr16:88738406 [GRCh38]
Chr16:88804814 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1989C>T (p.Thr663=) single nucleotide variant PIEZO1-related condition [RCV003968305]|not provided [RCV000905216] Chr16:88734658 [GRCh38]
Chr16:88801066 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002501412]|not provided [RCV000884752] Chr16:88737575 [GRCh38]
Chr16:88803983 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5241C>T (p.Phe1747=) single nucleotide variant not provided [RCV000930403] Chr16:88721700 [GRCh38]
Chr16:88788108 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4668+8T>G single nucleotide variant not provided [RCV000896857] Chr16:88722829 [GRCh38]
Chr16:88789237 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7316+8_7316+11del microsatellite not provided [RCV000895028] Chr16:88715922..88715925 [GRCh38]
Chr16:88782330..88782333 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5832C>T (p.Arg1944=) single nucleotide variant not provided [RCV000978425] Chr16:88720502 [GRCh38]
Chr16:88786910 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2445C>G (p.Phe815Leu) single nucleotide variant not provided [RCV002284626] Chr16:88733630 [GRCh38]
Chr16:88800038 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.6315C>G (p.Leu2105=) single nucleotide variant not provided [RCV000914904] Chr16:88719810 [GRCh38]
Chr16:88786218 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1427C>T (p.Thr476Met) single nucleotide variant Inborn genetic diseases [RCV002540885]|PIEZO1-related condition [RCV003978000]|not provided [RCV000915049] Chr16:88736278 [GRCh38]
Chr16:88802686 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.5802-4G>A single nucleotide variant PIEZO1-related condition [RCV003920766]|not provided [RCV000891547] Chr16:88720536 [GRCh38]
Chr16:88786944 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro) single nucleotide variant Lymphatic malformation 6 [RCV000791079]|not provided [RCV003133596] Chr16:88715618 [GRCh38]
Chr16:88782026 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu) single nucleotide variant Lymphatic malformation 6 [RCV001029735]|not provided [RCV001546117] Chr16:88733450 [GRCh38]
Chr16:88799858 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001029751]|not provided [RCV001784564] Chr16:88734531 [GRCh38]
Chr16:88800939 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q24.3(chr16:88782844-89140571)x3 copy number gain not provided [RCV000845893] Chr16:88782844..89140571 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu) single nucleotide variant Lymphatic malformation 6 [RCV000791080]|not provided [RCV003133597] Chr16:88731902 [GRCh38]
Chr16:88798310 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88697092-88791148)x1 copy number loss not provided [RCV000846887] Chr16:88697092..88791148 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.417C>T (p.Cys139=) single nucleotide variant not provided [RCV000977785] Chr16:88741526 [GRCh38]
Chr16:88807934 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2379C>G (p.Ala793=) single nucleotide variant not provided [RCV000898596] Chr16:88733696 [GRCh38]
Chr16:88800104 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7101A>G (p.Glu2367=) single nucleotide variant not provided [RCV000898649] Chr16:88716226 [GRCh38]
Chr16:88782634 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=) single nucleotide variant not provided [RCV000894433] Chr16:88720245 [GRCh38]
Chr16:88786653 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1141_1143del (p.Asp381del) deletion not provided [RCV000896578] Chr16:88737611..88737613 [GRCh38]
Chr16:88804019..88804021 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) single nucleotide variant Blood group, ER [RCV003225738]|not provided [RCV000961367] Chr16:88716825 [GRCh38]
Chr16:88783233 [GRCh37]
Chr16:16q24.3		 affects|benign|likely benign
NM_001142864.4(PIEZO1):c.6879C>T (p.Tyr2293=) single nucleotide variant PIEZO1-related condition [RCV003943258]|not provided [RCV000976541] Chr16:88716606 [GRCh38]
Chr16:88783014 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=) single nucleotide variant PIEZO1-related condition [RCV003933054]|not provided [RCV000916416]|not specified [RCV001002420] Chr16:88716681 [GRCh38]
Chr16:88783089 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1216C>G (p.Pro406Ala) single nucleotide variant Inborn genetic diseases [RCV003268448] Chr16:88736719 [GRCh38]
Chr16:88803127 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6828G>C (p.Ala2276=) single nucleotide variant not provided [RCV000916156] Chr16:88716657 [GRCh38]
Chr16:88783065 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=) single nucleotide variant PIEZO1-related condition [RCV003916039]|not provided [RCV000961077] Chr16:88716369 [GRCh38]
Chr16:88782777 [GRCh37]
Chr16:16q24.3		 benign|likely benign
GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1 copy number loss not provided [RCV000847422] Chr16:88453448..89569215 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.5910C>T (p.Val1970=) single nucleotide variant not provided [RCV000892799] Chr16:88720424 [GRCh38]
Chr16:88786832 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3 copy number gain not provided [RCV000849210] Chr16:87848902..88809407 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6471+9G>A single nucleotide variant PIEZO1-related condition [RCV003920767]|not provided [RCV000891620] Chr16:88719565 [GRCh38]
Chr16:88785973 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.7389G>T (p.Ser2463=) single nucleotide variant not provided [RCV000936292] Chr16:88715782 [GRCh38]
Chr16:88782190 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5290G>T (p.Glu1764Ter) single nucleotide variant Lymphatic malformation 6 [RCV003492224]|not provided [RCV001171788] Chr16:88721651 [GRCh38]
Chr16:88788059 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=) single nucleotide variant not provided [RCV001548717]|not specified [RCV001699499] Chr16:88738614 [GRCh38]
Chr16:88805022 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6660+17C>T single nucleotide variant not provided [RCV001644890] Chr16:88717006 [GRCh38]
Chr16:88783414 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.352G>A (p.Ala118Thr) single nucleotide variant not specified [RCV001000959] Chr16:88741591 [GRCh38]
Chr16:88807999 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4373_4387delinsCGGCAGCAGG (p.Val1458fs) indel Lymphatic malformation 6 [RCV001172313] Chr16:88723277..88723291 [GRCh38]
Chr16:88789685..88789699 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) single nucleotide variant Inborn genetic diseases [RCV002551696]|Lymphatic malformation 6 [RCV003458219]|not provided [RCV001509525]|not specified [RCV001002508] Chr16:88720079 [GRCh38]
Chr16:88786487 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001196779] Chr16:88716880 [GRCh38]
Chr16:88783288 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6964G>T (p.Glu2322Ter) single nucleotide variant Lymphatic malformation 6 [RCV001250671] Chr16:88716446 [GRCh38]
Chr16:88782854 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.2857C>T (p.Arg953Cys) single nucleotide variant not provided [RCV003480219] Chr16:88732469 [GRCh38]
Chr16:88798877 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4315T>C (p.Ser1439Pro) single nucleotide variant not provided [RCV003480211] Chr16:88723891 [GRCh38]
Chr16:88790299 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4918G>A (p.Gly1640Arg) single nucleotide variant not provided [RCV003480209] Chr16:88722255 [GRCh38]
Chr16:88788663 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6823G>C (p.Gly2275Arg) single nucleotide variant not provided [RCV003480207] Chr16:88716662 [GRCh38]
Chr16:88783070 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7005G>T (p.Arg2335=) single nucleotide variant not provided [RCV003312354] Chr16:88716405 [GRCh38]
Chr16:88782813 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1815G>A (p.Met605Ile) single nucleotide variant not provided [RCV003312355] Chr16:88734908 [GRCh38]
Chr16:88801316 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1538G>A (p.Cys513Tyr) single nucleotide variant Inborn genetic diseases [RCV003272494] Chr16:88736167 [GRCh38]
Chr16:88802575 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2932G>C (p.Asp978His) single nucleotide variant Inborn genetic diseases [RCV003272495] Chr16:88732394 [GRCh38]
Chr16:88798802 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4786G>A (p.Ala1596Thr) single nucleotide variant Inborn genetic diseases [RCV003249173] Chr16:88722387 [GRCh38]
Chr16:88788795 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val) single nucleotide variant PIEZO1-related condition [RCV003943303]|not provided [RCV000996381] Chr16:88719818 [GRCh38]
Chr16:88786226 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val) single nucleotide variant not provided [RCV000996382] Chr16:88738323 [GRCh38]
Chr16:88804731 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3000C>G (p.Phe1000Leu) single nucleotide variant not provided [RCV003127058] Chr16:88731902 [GRCh38]
Chr16:88798310 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_88788606)_(88792112_?)dup duplication not provided [RCV003105572] Chr16:88788606..88792112 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4234+291G>C single nucleotide variant not provided [RCV001641823] Chr16:88724718 [GRCh38]
Chr16:88791126 [GRCh37]
Chr16:16q24.3		 benign
NM_001012759.3(CTU2):c.1420-37A>G single nucleotide variant Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome [RCV001658313]|not provided [RCV001615490] Chr16:88715011 [GRCh38]
Chr16:88781419 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala) single nucleotide variant not provided [RCV001550505] Chr16:88738004 [GRCh38]
Chr16:88804412 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly) single nucleotide variant Inborn genetic diseases [RCV002570791]|PIEZO1-related condition [RCV003405724]|not provided [RCV001572943] Chr16:88716704 [GRCh38]
Chr16:88783112 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.3699+35G>T single nucleotide variant not provided [RCV001570402] Chr16:88726680 [GRCh38]
Chr16:88793088 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.327-207A>G single nucleotide variant not provided [RCV001574641] Chr16:88741823 [GRCh38]
Chr16:88808231 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6472-119T>C single nucleotide variant not provided [RCV001662893] Chr16:88717330 [GRCh38]
Chr16:88783738 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2515G>A (p.Val839Met) single nucleotide variant not provided [RCV003318088] Chr16:88733427 [GRCh38]
Chr16:88799835 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1690C>G (p.Leu564Val) single nucleotide variant Inborn genetic diseases [RCV003275469] Chr16:88735033 [GRCh38]
Chr16:88801441 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6472-290G>A single nucleotide variant not provided [RCV001686307] Chr16:88717501 [GRCh38]
Chr16:88783909 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.466-138G>A single nucleotide variant not provided [RCV001614862] Chr16:88738874 [GRCh38]
Chr16:88805282 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1297-59_1298del deletion Lymphatic malformation 6 [RCV001732207]|not provided [RCV001560508] Chr16:88736407..88736467 [GRCh38]
Chr16:88802815..88802875 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1997+32C>T single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788747]|Lymphatic malformation 6 [RCV001788748]|not provided [RCV001675146] Chr16:88734618 [GRCh38]
Chr16:88801026 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3301+17A>C single nucleotide variant not provided [RCV001714840] Chr16:88727540 [GRCh38]
Chr16:88793948 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.327-137G>A single nucleotide variant not provided [RCV001596446] Chr16:88741753 [GRCh38]
Chr16:88808161 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4234+215A>G single nucleotide variant not provided [RCV001684732] Chr16:88724794 [GRCh38]
Chr16:88791202 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2665-198C>T single nucleotide variant not provided [RCV001713546] Chr16:88732930 [GRCh38]
Chr16:88799338 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.161-32G>A single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788652]|Lymphatic malformation 6 [RCV001788653]|not provided [RCV001637276] Chr16:88742454 [GRCh38]
Chr16:88808862 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2181-89_2181-84del deletion not provided [RCV001612472] Chr16:88734138..88734143 [GRCh38]
Chr16:88800546..88800551 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2992-46_2992-45insCT insertion not provided [RCV001556652] Chr16:88731955..88731956 [GRCh38]
Chr16:88798363..88798364 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6132G>A (p.Trp2044Ter) single nucleotide variant not provided [RCV002284337] Chr16:88720101 [GRCh38]
Chr16:88786509 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.6660+58G>A single nucleotide variant not provided [RCV001562301] Chr16:88716965 [GRCh38]
Chr16:88783373 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001012759.3(CTU2):c.1478+20C>T single nucleotide variant not provided [RCV001642137] Chr16:88715126 [GRCh38]
Chr16:88781534 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4163-37T>G single nucleotide variant not provided [RCV001676497] Chr16:88725117 [GRCh38]
Chr16:88791525 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2245_2250del (p.Gln749_Glu750del) deletion not provided [RCV001558588] Chr16:88733985..88733990 [GRCh38]
Chr16:88800393..88800398 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.2665-193C>T single nucleotide variant not provided [RCV001687731] Chr16:88732925 [GRCh38]
Chr16:88799333 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1196-48A>G single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788773]|Lymphatic malformation 6 [RCV001788774]|not provided [RCV001694357] Chr16:88736787 [GRCh38]
Chr16:88803195 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2665-162C>G single nucleotide variant not provided [RCV001616999] Chr16:88732894 [GRCh38]
Chr16:88799302 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser) single nucleotide variant Inborn genetic diseases [RCV003284378]|not provided [RCV001573763] Chr16:88716236 [GRCh38]
Chr16:88782644 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.4162+117T>C single nucleotide variant not provided [RCV001676895] Chr16:88725299 [GRCh38]
Chr16:88791707 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1768G>A (p.Val590Met) single nucleotide variant Inborn genetic diseases [RCV003252833] Chr16:88734955 [GRCh38]
Chr16:88801363 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5720C>T (p.Thr1907Met) single nucleotide variant Inborn genetic diseases [RCV003242368] Chr16:88720697 [GRCh38]
Chr16:88787105 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4496-5C>T single nucleotide variant not provided [RCV000904773] Chr16:88723014 [GRCh38]
Chr16:88789422 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1782C>T (p.Ala594=) single nucleotide variant not provided [RCV000929653] Chr16:88734941 [GRCh38]
Chr16:88801349 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2889C>G (p.Ala963=) single nucleotide variant PIEZO1-related condition [RCV003910848]|not provided [RCV000907126] Chr16:88732437 [GRCh38]
Chr16:88798845 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) microsatellite PIEZO1-related condition [RCV003978238]|not provided [RCV000952749] Chr16:88717175..88717177 [GRCh38]
Chr16:88783583..88783585 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1926C>T (p.Ile642=) single nucleotide variant PIEZO1-related condition [RCV003960494]|not provided [RCV000932298] Chr16:88734721 [GRCh38]
Chr16:88801129 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4766C>T (p.Thr1589Ile) single nucleotide variant not provided [RCV000910541] Chr16:88722592 [GRCh38]
Chr16:88789000 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1326G>C (p.Leu442=) single nucleotide variant not provided [RCV000889110] Chr16:88736379 [GRCh38]
Chr16:88802787 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.835G>A (p.Gly279Ser) single nucleotide variant not provided [RCV000889111] Chr16:88738240 [GRCh38]
Chr16:88804648 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1998-10C>T single nucleotide variant PIEZO1-related condition [RCV003895423]|not provided [RCV000885312] Chr16:88734548 [GRCh38]
Chr16:88800956 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.635-4G>A single nucleotide variant not provided [RCV000900036] Chr16:88738444 [GRCh38]
Chr16:88804852 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile) single nucleotide variant PIEZO1-related condition [RCV003910503]|not provided [RCV000887226] Chr16:88726324 [GRCh38]
Chr16:88792732 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2982C>T (p.Phe994=) single nucleotide variant not provided [RCV000931638] Chr16:88732344 [GRCh38]
Chr16:88798752 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1779C>T (p.Phe593=) single nucleotide variant not provided [RCV000922617] Chr16:88734944 [GRCh38]
Chr16:88801352 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7023G>A (p.Leu2341=) single nucleotide variant not provided [RCV000927615] Chr16:88716387 [GRCh38]
Chr16:88782795 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1296+7G>A single nucleotide variant not provided [RCV000885409] Chr16:88736632 [GRCh38]
Chr16:88803040 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2622C>T (p.Leu874=) single nucleotide variant not provided [RCV000932469] Chr16:88733320 [GRCh38]
Chr16:88799728 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5865C>T (p.Arg1955=) single nucleotide variant PIEZO1-related condition [RCV003932966]|not provided [RCV000909908] Chr16:88720469 [GRCh38]
Chr16:88786877 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.7296C>T (p.Leu2432=) single nucleotide variant not provided [RCV000918498] Chr16:88715953 [GRCh38]
Chr16:88782361 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2940C>T (p.Leu980=) single nucleotide variant not provided [RCV000908429] Chr16:88732386 [GRCh38]
Chr16:88798794 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5668+8C>T single nucleotide variant not provided [RCV000979646] Chr16:88721158 [GRCh38]
Chr16:88787566 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5214+8G>A single nucleotide variant not provided [RCV000922956] Chr16:88721800 [GRCh38]
Chr16:88788208 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2685C>T (p.Asn895=) single nucleotide variant not provided [RCV000885311] Chr16:88732712 [GRCh38]
Chr16:88799120 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.7524C>T (p.Arg2508=) single nucleotide variant not provided [RCV000931788] Chr16:88715647 [GRCh38]
Chr16:88782055 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5133C>T (p.Pro1711=) single nucleotide variant not provided [RCV000932602] Chr16:88721889 [GRCh38]
Chr16:88788297 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3666C>T (p.Asn1222=) single nucleotide variant not provided [RCV000888196] Chr16:88726748 [GRCh38]
Chr16:88793156 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7332C>T (p.Tyr2444=) single nucleotide variant not provided [RCV000960970] Chr16:88715839 [GRCh38]
Chr16:88782247 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6165-7G>A single nucleotide variant not provided [RCV000894228] Chr16:88719967 [GRCh38]
Chr16:88786375 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6129A>C (p.Leu2043=) single nucleotide variant PIEZO1-related condition [RCV003912863]|not provided [RCV000900905] Chr16:88720104 [GRCh38]
Chr16:88786512 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2529C>T (p.Phe843=) single nucleotide variant PIEZO1-related condition [RCV003942828]|not provided [RCV000919499] Chr16:88733413 [GRCh38]
Chr16:88799821 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys) single nucleotide variant PIEZO1-related condition [RCV003935808]|not provided [RCV000953031] Chr16:88720689 [GRCh38]
Chr16:88787097 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) single nucleotide variant PIEZO1-related condition [RCV003935809]|not provided [RCV000953032] Chr16:88721883 [GRCh38]
Chr16:88788291 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2139C>T (p.His713=) single nucleotide variant not provided [RCV000953033] Chr16:88734397 [GRCh38]
Chr16:88800805 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3474G>T (p.Leu1158=) single nucleotide variant not provided [RCV000885630] Chr16:88726940 [GRCh38]
Chr16:88793348 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1849-6C>T single nucleotide variant not provided [RCV000879328] Chr16:88734804 [GRCh38]
Chr16:88801212 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1112T>G (p.Val371Gly) single nucleotide variant Inborn genetic diseases [RCV002539352]|not provided [RCV000886193] Chr16:88737642 [GRCh38]
Chr16:88804050 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5913C>T (p.Asp1971=) single nucleotide variant not provided [RCV000930234] Chr16:88720421 [GRCh38]
Chr16:88786829 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002505445]|not provided [RCV000961369] Chr16:88727131 [GRCh38]
Chr16:88793539 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5883T>C (p.Tyr1961=) single nucleotide variant PIEZO1-related condition [RCV003940483]|not provided [RCV000884096] Chr16:88720451 [GRCh38]
Chr16:88786859 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys) single nucleotide variant not provided [RCV000892527]|not specified [RCV002268349] Chr16:88721207 [GRCh38]
Chr16:88787615 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.567A>C (p.Arg189=) single nucleotide variant not provided [RCV000939722] Chr16:88738635 [GRCh38]
Chr16:88805043 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.627A>G (p.Ala209=) single nucleotide variant not provided [RCV000886239]|not specified [RCV001726362] Chr16:88738575 [GRCh38]
Chr16:88804983 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4968C>A (p.Ile1656=) single nucleotide variant PIEZO1-related condition [RCV003895541]|not provided [RCV000910178] Chr16:88722054 [GRCh38]
Chr16:88788462 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4356G>C (p.Val1452=) single nucleotide variant not provided [RCV000881970] Chr16:88723308 [GRCh38]
Chr16:88789716 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) single nucleotide variant not provided [RCV000959332]|not specified [RCV001701263] Chr16:88737956 [GRCh38]
Chr16:88804364 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5238G>A (p.Leu1746=) single nucleotide variant not provided [RCV000897105] Chr16:88721703 [GRCh38]
Chr16:88788111 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5404-9G>A single nucleotide variant not provided [RCV000926181] Chr16:88721439 [GRCh38]
Chr16:88787847 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5976G>A (p.Thr1992=) single nucleotide variant not provided [RCV000915386] Chr16:88720257 [GRCh38]
Chr16:88786665 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7353C>T (p.Ile2451=) single nucleotide variant PIEZO1-related condition [RCV003950817]|not provided [RCV000915435] Chr16:88715818 [GRCh38]
Chr16:88782226 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2952G>A (p.Lys984=) single nucleotide variant not provided [RCV000976040] Chr16:88732374 [GRCh38]
Chr16:88798782 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002487967]|not provided [RCV000901743] Chr16:88715676 [GRCh38]
Chr16:88782084 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4955+3G>A single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002505306]|not provided [RCV000901744] Chr16:88722215 [GRCh38]
Chr16:88788623 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002502663]|not provided [RCV000901745] Chr16:88722301 [GRCh38]
Chr16:88788709 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003992420]|not provided [RCV000901746] Chr16:88726317 [GRCh38]
Chr16:88792725 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.2664+7del deletion Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002502664]|not provided [RCV000901747] Chr16:88733271 [GRCh38]
Chr16:88799679 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5052C>T (p.Ala1684=) single nucleotide variant not provided [RCV000917997] Chr16:88721970 [GRCh38]
Chr16:88788378 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3597C>T (p.Phe1199=) single nucleotide variant not provided [RCV000885629] Chr16:88726817 [GRCh38]
Chr16:88793225 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2970C>T (p.Phe990=) single nucleotide variant not provided [RCV000930694] Chr16:88732356 [GRCh38]
Chr16:88798764 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.849-10C>T single nucleotide variant not provided [RCV000886970] Chr16:88738115 [GRCh38]
Chr16:88804523 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2520G>C (p.Leu840=) single nucleotide variant not provided [RCV000910305] Chr16:88733422 [GRCh38]
Chr16:88799830 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1998-5C>T single nucleotide variant PIEZO1-related condition [RCV003950719]|not provided [RCV000910317] Chr16:88734543 [GRCh38]
Chr16:88800951 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4495+4C>T single nucleotide variant PIEZO1-related condition [RCV003936164]|not provided [RCV000973214] Chr16:88723091 [GRCh38]
Chr16:88789499 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3426C>G (p.Pro1142=) single nucleotide variant not provided [RCV000885686] Chr16:88727068 [GRCh38]
Chr16:88793476 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4775+8C>T single nucleotide variant not provided [RCV000931382] Chr16:88722575 [GRCh38]
Chr16:88788983 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3153C>T (p.Tyr1051=) single nucleotide variant PIEZO1-related condition [RCV003895539]|not provided [RCV000909518] Chr16:88731749 [GRCh38]
Chr16:88798157 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5871C>T (p.Ala1957=) single nucleotide variant not provided [RCV000933424] Chr16:88720463 [GRCh38]
Chr16:88786871 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1767C>T (p.Ile589=) single nucleotide variant not provided [RCV000921313] Chr16:88734956 [GRCh38]
Chr16:88801364 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5226C>T (p.Val1742=) single nucleotide variant not provided [RCV000917815] Chr16:88721715 [GRCh38]
Chr16:88788123 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002495342]|not provided [RCV000880697] Chr16:88749412 [GRCh38]
Chr16:88815820 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.7314C>T (p.Tyr2438=) single nucleotide variant PIEZO1-related condition [RCV003970458]|not provided [RCV000918000] Chr16:88715935 [GRCh38]
Chr16:88782343 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.675G>T (p.Leu225=) single nucleotide variant not provided [RCV000918017] Chr16:88738400 [GRCh38]
Chr16:88804808 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6144C>T (p.Ile2048=) single nucleotide variant PIEZO1-related condition [RCV003970582]|not provided [RCV000933062] Chr16:88720089 [GRCh38]
Chr16:88786497 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1306A>T (p.Ile436Phe) single nucleotide variant not provided [RCV001239412] Chr16:88736399 [GRCh38]
Chr16:88802807 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) single nucleotide variant Lymphatic malformation 6 [RCV001250670]|not provided [RCV001812261] Chr16:88720644 [GRCh38]
Chr16:88787052 [GRCh37]
Chr16:16q24.3		 pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.2554C>G (p.Pro852Ala) single nucleotide variant not provided [RCV001236586] Chr16:88733388 [GRCh38]
Chr16:88799796 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.4453C>T (p.Gln1485Ter) single nucleotide variant not provided [RCV001236587] Chr16:88723137 [GRCh38]
Chr16:88789545 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.3282C>T (p.Pro1094=) single nucleotide variant not provided [RCV000911927] Chr16:88727576 [GRCh38]
Chr16:88793984 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1723G>A (p.Val575Met) single nucleotide variant not provided [RCV000957490] Chr16:88735000 [GRCh38]
Chr16:88801408 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.263A>G (p.Asp88Gly) single nucleotide variant not provided [RCV000957491] Chr16:88742320 [GRCh38]
Chr16:88808728 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4887G>C (p.Gly1629=) single nucleotide variant not provided [RCV000913220] Chr16:88722286 [GRCh38]
Chr16:88788694 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4866G>A (p.Glu1622=) single nucleotide variant not provided [RCV000890217] Chr16:88722307 [GRCh38]
Chr16:88788715 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6936G>T (p.Ala2312=) single nucleotide variant not provided [RCV000912127] Chr16:88716474 [GRCh38]
Chr16:88782882 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5214+7C>T single nucleotide variant PIEZO1-related condition [RCV003970372]|not provided [RCV000912152] Chr16:88721801 [GRCh38]
Chr16:88788209 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6303C>T (p.Leu2101=) single nucleotide variant not provided [RCV000913491] Chr16:88719822 [GRCh38]
Chr16:88786230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1196-6C>T single nucleotide variant not provided [RCV000891412] Chr16:88736745 [GRCh38]
Chr16:88803153 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2823C>T (p.Phe941=) single nucleotide variant not provided [RCV000913510] Chr16:88732503 [GRCh38]
Chr16:88798911 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4102C>A (p.Arg1368=) single nucleotide variant not provided [RCV000911244] Chr16:88725476 [GRCh38]
Chr16:88791884 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2316G>C (p.Thr772=) single nucleotide variant not provided [RCV000913427] Chr16:88733919 [GRCh38]
Chr16:88800327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7419C>T (p.Cys2473=) single nucleotide variant not provided [RCV000913963] Chr16:88715752 [GRCh38]
Chr16:88782160 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4813G>A (p.Asp1605Asn) single nucleotide variant PIEZO1-related condition [RCV003913034]|not provided [RCV000912634] Chr16:88722360 [GRCh38]
Chr16:88788768 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7152C>T (p.Gly2384=) single nucleotide variant not provided [RCV000957487] Chr16:88716097 [GRCh38]
Chr16:88782505 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6222C>T (p.Phe2074=) single nucleotide variant not provided [RCV000957488] Chr16:88719903 [GRCh38]
Chr16:88786311 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4475G>A (p.Gly1492Asp) single nucleotide variant not provided [RCV000957489] Chr16:88723115 [GRCh38]
Chr16:88789523 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.705C>T (p.Ala235=) single nucleotide variant not provided [RCV000891210] Chr16:88738370 [GRCh38]
Chr16:88804778 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.429A>T (p.Ala143=) single nucleotide variant PIEZO1-related condition [RCV003923183]|not provided [RCV000912490] Chr16:88741514 [GRCh38]
Chr16:88807922 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4728G>A (p.Thr1576=) single nucleotide variant not provided [RCV000890831] Chr16:88722630 [GRCh38]
Chr16:88789038 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2992-200C>G single nucleotide variant not provided [RCV001677253] Chr16:88732110 [GRCh38]
Chr16:88798518 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3301+141CGCA[2] microsatellite not provided [RCV001563062] Chr16:88727401..88727408 [GRCh38]
Chr16:88793809..88793816 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001012759.3(CTU2):c.*132A>C single nucleotide variant not provided [RCV001661131] Chr16:88715383 [GRCh38]
Chr16:88781791 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.466-92C>T single nucleotide variant not provided [RCV001657558] Chr16:88738828 [GRCh38]
Chr16:88805236 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3198T>A (p.Asp1066Glu) single nucleotide variant Hemolytic anemia [RCV003234640] Chr16:88727660 [GRCh38]
Chr16:88794068 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.848+59G>A single nucleotide variant not provided [RCV001558821] Chr16:88738168 [GRCh38]
Chr16:88804576 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4335+132C>A single nucleotide variant not provided [RCV001595761] Chr16:88723739 [GRCh38]
Chr16:88790147 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3796+22G>A single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788795]|Lymphatic malformation 6 [RCV001788796]|not provided [RCV001693632] Chr16:88726525 [GRCh38]
Chr16:88792933 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.327-147A>G single nucleotide variant not provided [RCV001555256] Chr16:88741763 [GRCh38]
Chr16:88808171 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2991+143G>A single nucleotide variant not provided [RCV001560738] Chr16:88732192 [GRCh38]
Chr16:88798600 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.465+278T>C single nucleotide variant not provided [RCV001636226] Chr16:88741200 [GRCh38]
Chr16:88807608 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4955+8C>T single nucleotide variant PIEZO1-related condition [RCV003956266]|not provided [RCV001573788] Chr16:88722210 [GRCh38]
Chr16:88788618 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2991+108G>A single nucleotide variant not provided [RCV001550590] Chr16:88732227 [GRCh38]
Chr16:88798635 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4499G>T (p.Arg1500Leu) single nucleotide variant not provided [RCV003235907] Chr16:88723006 [GRCh38]
Chr16:88789414 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5464G>A (p.Glu1822Lys) single nucleotide variant Inborn genetic diseases [RCV004039419]|not provided [RCV001573905] Chr16:88721370 [GRCh38]
Chr16:88787778 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.1582C>T (p.Leu528Phe) single nucleotide variant Inborn genetic diseases [RCV003276404] Chr16:88735222 [GRCh38]
Chr16:88801630 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88697181-88809407)x1 copy number loss not provided [RCV002473721] Chr16:88697181..88809407 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001263246] Chr16:88719845 [GRCh38]
Chr16:88786253 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1557+62C>T single nucleotide variant not provided [RCV001540995] Chr16:88736086 [GRCh38]
Chr16:88802494 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.160+130dup duplication not provided [RCV001593344] Chr16:88749239..88749240 [GRCh38]
Chr16:88815647..88815648 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001012759.3(CTU2):c.1419+52_1419+54dup duplication not provided [RCV001688133] Chr16:88714976..88714977 [GRCh38]
Chr16:88781384..88781385 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4955+65A>G single nucleotide variant not provided [RCV001674346] Chr16:88722153 [GRCh38]
Chr16:88788561 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1195+36dup duplication Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788696]|Lymphatic malformation 6 [RCV001788697]|not provided [RCV001655421] Chr16:88737517..88737518 [GRCh38]
Chr16:88803925..88803926 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4775+57T>C single nucleotide variant not provided [RCV001659412] Chr16:88722526 [GRCh38]
Chr16:88788934 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1557+83G>A single nucleotide variant not provided [RCV001659475] Chr16:88736065 [GRCh38]
Chr16:88802473 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4853G>A (p.Arg1618His) single nucleotide variant Inborn genetic diseases [RCV002592495]|not provided [RCV001594059] Chr16:88722320 [GRCh38]
Chr16:88788728 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3301+171T>G single nucleotide variant not provided [RCV001597684] Chr16:88727386 [GRCh38]
Chr16:88793794 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.466-39C>T single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788810]|Lymphatic malformation 6 [RCV001788811]|not provided [RCV001689255] Chr16:88738775 [GRCh38]
Chr16:88805183 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4956-61A>G single nucleotide variant not provided [RCV001715012] Chr16:88722127 [GRCh38]
Chr16:88788535 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3968+101G>C single nucleotide variant not provided [RCV001582017] Chr16:88726183 [GRCh38]
Chr16:88792591 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2665-98A>G single nucleotide variant not provided [RCV001656240] Chr16:88732830 [GRCh38]
Chr16:88799238 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6660+57T>C single nucleotide variant not provided [RCV001650115] Chr16:88716966 [GRCh38]
Chr16:88783374 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.-187T>A single nucleotide variant not provided [RCV001649482] Chr16:88785151 [GRCh38]
Chr16:88851559 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.465+101C>T single nucleotide variant not provided [RCV001620451] Chr16:88741377 [GRCh38]
Chr16:88807785 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.161-88G>T single nucleotide variant not provided [RCV001686840] Chr16:88742510 [GRCh38]
Chr16:88808918 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.161-193G>C single nucleotide variant not provided [RCV001637661] Chr16:88742615 [GRCh38]
Chr16:88809023 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.-165G>A single nucleotide variant not provided [RCV001598611] Chr16:88785129 [GRCh38]
Chr16:88851537 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3699+33T>C single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788642]|Lymphatic malformation 6 [RCV001788643]|not provided [RCV001617908] Chr16:88726682 [GRCh38]
Chr16:88793090 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.65-154A>G single nucleotide variant not provided [RCV001653420] Chr16:88749633 [GRCh38]
Chr16:88816041 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3197-136C>G single nucleotide variant not provided [RCV001618097] Chr16:88727797 [GRCh38]
Chr16:88794205 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.65-39C>T single nucleotide variant not provided [RCV001588476] Chr16:88749518 [GRCh38]
Chr16:88815926 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2992-46_2992-45insCAT insertion not provided [RCV001594308] Chr16:88731955..88731956 [GRCh38]
Chr16:88798363..88798364 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3196+132C>G single nucleotide variant not provided [RCV001638548] Chr16:88731574 [GRCh38]
Chr16:88797982 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.7316+21del deletion Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788659]|Lymphatic malformation 6 [RCV001788660]|not provided [RCV001636356] Chr16:88715912 [GRCh38]
Chr16:88782320 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2488-34_2488-3del microsatellite not provided [RCV003546609]|not specified [RCV001001051] Chr16:88733457..88733488 [GRCh38]
Chr16:88799865..88799896 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5822C>T (p.Pro1941Leu) single nucleotide variant not specified [RCV001001180] Chr16:88720512 [GRCh38]
Chr16:88786920 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys) single nucleotide variant not provided [RCV001811603] Chr16:88721319 [GRCh38]
Chr16:88787727 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2330-16C>T single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002489507]|not provided [RCV001811614] Chr16:88733761 [GRCh38]
Chr16:88800169 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1196-17G>A single nucleotide variant not provided [RCV001724286] Chr16:88736756 [GRCh38]
Chr16:88803164 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5668+186G>A single nucleotide variant not provided [RCV001694342] Chr16:88720980 [GRCh38]
Chr16:88787388 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3301+179A>G single nucleotide variant not provided [RCV001694344] Chr16:88727378 [GRCh38]
Chr16:88793786 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4775+53C>T single nucleotide variant not provided [RCV001611951] Chr16:88722530 [GRCh38]
Chr16:88788938 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=) single nucleotide variant PIEZO1-related condition [RCV003953421]|not provided [RCV003736955]|not specified [RCV001001144] Chr16:88716854 [GRCh38]
Chr16:88783262 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4234+18G>A single nucleotide variant not specified [RCV001001165] Chr16:88724991 [GRCh38]
Chr16:88791399 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met) single nucleotide variant not provided [RCV001509524] Chr16:88719920 [GRCh38]
Chr16:88786328 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met) single nucleotide variant not provided [RCV001464424]|not specified [RCV001002143] Chr16:88726812 [GRCh38]
Chr16:88793220 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5615G>A (p.Arg1872His) single nucleotide variant Inborn genetic diseases [RCV004030270]|not provided [RCV003130097]|not specified [RCV001002354] Chr16:88721219 [GRCh38]
Chr16:88787627 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.64+12G>T single nucleotide variant not specified [RCV001002559] Chr16:88784889 [GRCh38]
Chr16:88851297 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2330-23C>A single nucleotide variant not provided [RCV001667946] Chr16:88733768 [GRCh38]
Chr16:88800176 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.327-117A>G single nucleotide variant not provided [RCV001678784] Chr16:88741733 [GRCh38]
Chr16:88808141 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3301+152A>G single nucleotide variant not provided [RCV001645932] Chr16:88727405 [GRCh38]
Chr16:88793813 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4775+31G>T single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788682]|Lymphatic malformation 6 [RCV001788683]|not provided [RCV001652047] Chr16:88722552 [GRCh38]
Chr16:88788960 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4234+188_4234+189del microsatellite not provided [RCV001644512] Chr16:88724820..88724821 [GRCh38]
Chr16:88791228..88791229 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2180+71G>A single nucleotide variant not provided [RCV001648875] Chr16:88734285 [GRCh38]
Chr16:88800693 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2181-139A>G single nucleotide variant not provided [RCV001693191] Chr16:88734193 [GRCh38]
Chr16:88800601 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.161-275T>A single nucleotide variant not provided [RCV001616254] Chr16:88742697 [GRCh38]
Chr16:88809105 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.161-211G>C single nucleotide variant not provided [RCV001667306] Chr16:88742633 [GRCh38]
Chr16:88809041 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3301+107G>A single nucleotide variant not provided [RCV001649091] Chr16:88727450 [GRCh38]
Chr16:88793858 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1557+45C>A single nucleotide variant not provided [RCV001694313] Chr16:88736103 [GRCh38]
Chr16:88802511 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.466-112G>T single nucleotide variant not provided [RCV001641367] Chr16:88738848 [GRCh38]
Chr16:88805256 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1195+33T>G single nucleotide variant not provided [RCV001611298] Chr16:88737526 [GRCh38]
Chr16:88803934 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3197-244C>T single nucleotide variant not provided [RCV001536800] Chr16:88727905 [GRCh38]
Chr16:88794313 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5802-27G>A single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788721]|Lymphatic malformation 6 [RCV001788722]|not provided [RCV001668782] Chr16:88720559 [GRCh38]
Chr16:88786967 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser) single nucleotide variant not provided [RCV001573353] Chr16:88722053 [GRCh38]
Chr16:88788461 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup) microsatellite not provided [RCV001573362]|not specified [RCV001700786] Chr16:88733964..88733965 [GRCh38]
Chr16:88800372..88800373 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.2664+269C>G single nucleotide variant not provided [RCV001643746] Chr16:88733009 [GRCh38]
Chr16:88799417 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.161-42C>T single nucleotide variant not provided [RCV001679411] Chr16:88742464 [GRCh38]
Chr16:88808872 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3197-334C>T single nucleotide variant not provided [RCV001708147] Chr16:88727995 [GRCh38]
Chr16:88794403 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1297-14T>C single nucleotide variant not provided [RCV001583876] Chr16:88736422 [GRCh38]
Chr16:88802830 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3302-67A>G single nucleotide variant not provided [RCV001588250] Chr16:88727259 [GRCh38]
Chr16:88793667 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2665-148C>T single nucleotide variant not provided [RCV001691788] Chr16:88732880 [GRCh38]
Chr16:88799288 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4668+46C>T single nucleotide variant not provided [RCV001611791] Chr16:88722791 [GRCh38]
Chr16:88789199 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3302-32T>C single nucleotide variant not provided [RCV001612844] Chr16:88727224 [GRCh38]
Chr16:88793632 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.465+243C>T single nucleotide variant not provided [RCV001539601] Chr16:88741235 [GRCh38]
Chr16:88807643 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_001142864.4(PIEZO1):c.4404_4405insAGCAGG (p.Ala1469_Arg1470insSerArg) insertion none provided [RCV001000428] Chr16:88723259..88723260 [GRCh38]
Chr16:88789667..88789668 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3456-11C>T single nucleotide variant not provided [RCV001574048]|not specified [RCV001700965] Chr16:88726969 [GRCh38]
Chr16:88793377 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp) single nucleotide variant not provided [RCV002551694]|not specified [RCV001002399] Chr16:88737784 [GRCh38]
Chr16:88804192 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met) single nucleotide variant not provided [RCV002549187]|not specified [RCV001002651] Chr16:88736258 [GRCh38]
Chr16:88802666 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) single nucleotide variant Inborn genetic diseases [RCV002549154]|not provided [RCV001811589] Chr16:88735213 [GRCh38]
Chr16:88801621 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6288G>A (p.Lys2096=) single nucleotide variant not provided [RCV001673000] Chr16:88719837 [GRCh38]
Chr16:88786245 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5505G>A (p.Ala1835=) single nucleotide variant not provided [RCV001664607] Chr16:88721329 [GRCh38]
Chr16:88787737 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.786C>A (p.Cys262Ter) single nucleotide variant not provided [RCV001233121] Chr16:88738289 [GRCh38]
Chr16:88804697 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.5289C>T (p.Tyr1763=) single nucleotide variant not provided [RCV001570179] Chr16:88721652 [GRCh38]
Chr16:88788060 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=) single nucleotide variant not provided [RCV001585906] Chr16:88733609 [GRCh38]
Chr16:88800017 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4289A>T (p.Glu1430Val) single nucleotide variant Inborn genetic diseases [RCV002550746]|not provided [RCV003656151] Chr16:88723917 [GRCh38]
Chr16:88790325 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2329+11C>T single nucleotide variant not specified [RCV001001109] Chr16:88733895 [GRCh38]
Chr16:88800303 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3700-12G>T single nucleotide variant not provided [RCV001811612] Chr16:88726655 [GRCh38]
Chr16:88793063 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4291G>C (p.Ala1431Pro) single nucleotide variant Inborn genetic diseases [RCV002549175]|not provided [RCV003656154] Chr16:88723915 [GRCh38]
Chr16:88790323 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4519G>C (p.Val1507Leu) single nucleotide variant Polyhydramnios [RCV001257388] Chr16:88722986 [GRCh38]
Chr16:88789394 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg) single nucleotide variant Polyhydramnios [RCV001257389]|not provided [RCV001357682] Chr16:88722288 [GRCh38]
Chr16:88788696 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs) deletion Inborn genetic diseases [RCV001266664]|Lymphatic malformation 6 [RCV003323839]|not provided [RCV001812267] Chr16:88723928..88723931 [GRCh38]
Chr16:88790336..88790339 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.7477CTGGAG[1] (p.2493LE[1]) microsatellite Inborn genetic diseases [RCV001266665] Chr16:88715683..88715688 [GRCh38]
Chr16:88782091..88782096 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.1196-353C>G single nucleotide variant not provided [RCV001641592] Chr16:88737092 [GRCh38]
Chr16:88803500 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu) single nucleotide variant Hydrops fetalis [RCV001257384]|PIEZO1-related condition [RCV003945950]|not provided [RCV002570622] Chr16:88727154 [GRCh38]
Chr16:88793562 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001257446]|Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001729823] Chr16:88731711 [GRCh38]
Chr16:88798119 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.2416del (p.Leu806fs) deletion Xerocytosis [RCV001334826] Chr16:88733659 [GRCh38]
Chr16:88800067 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001262597]|not provided [RCV001812265] Chr16:88732466 [GRCh38]
Chr16:88798874 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6070C>T (p.Arg2024Cys) single nucleotide variant not provided [RCV001810608] Chr16:88720163 [GRCh38]
Chr16:88786571 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7184C>T (p.Ala2395Val) single nucleotide variant Hydrops fetalis [RCV001257385]|not provided [RCV003558769] Chr16:88716065 [GRCh38]
Chr16:88782473 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001257445]|Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001729822] Chr16:88727661 [GRCh38]
Chr16:88794069 [GRCh37]
Chr16:16q24.3		 likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 copy number gain not provided [RCV001258663] Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1179_1180delinsGC (p.Val394Leu) indel not provided [RCV003084280] Chr16:88737574..88737575 [GRCh38]
Chr16:88803982..88803983 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1020+14A>G single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001331709] Chr16:88737920 [GRCh38]
Chr16:88804328 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5054C>T (p.Ala1685Val) single nucleotide variant Inborn genetic diseases [RCV003246831]|not provided [RCV001812363] Chr16:88721968 [GRCh38]
Chr16:88788376 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1540C>T (p.Leu514=) single nucleotide variant not provided [RCV001615149] Chr16:88736165 [GRCh38]
Chr16:88802573 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.765C>T (p.Phe255=) single nucleotide variant not provided [RCV001812989] Chr16:88738310 [GRCh38]
Chr16:88804718 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1297-16C>T single nucleotide variant not provided [RCV001713080] Chr16:88736424 [GRCh38]
Chr16:88802832 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6375G>A (p.Val2125=) single nucleotide variant not provided [RCV001813100] Chr16:88719670 [GRCh38]
Chr16:88786078 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7316G>A (p.Gly2439Asp) single nucleotide variant not provided [RCV001810695] Chr16:88715933 [GRCh38]
Chr16:88782341 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs) deletion Thickened nuchal skin fold [RCV001257386] Chr16:88736168..88736169 [GRCh38]
Chr16:88802576..88802577 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.4610_4617dup (p.Ser1540delinsAlaProTer) duplication Thickened nuchal skin fold [RCV001257387] Chr16:88722887..88722888 [GRCh38]
Chr16:88789295..88789296 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.6160G>C (p.Glu2054Gln) single nucleotide variant not provided [RCV001812468] Chr16:88720073 [GRCh38]
Chr16:88786481 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3796+16G>A single nucleotide variant not provided [RCV001812911] Chr16:88726531 [GRCh38]
Chr16:88792939 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3461A>G (p.Tyr1154Cys) single nucleotide variant PIEZO1-related condition [RCV003416150]|not provided [RCV001812913] Chr16:88726953 [GRCh38]
Chr16:88793361 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3399C>T (p.Asp1133=) single nucleotide variant not provided [RCV001813143] Chr16:88727095 [GRCh38]
Chr16:88793503 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7183G>A (p.Ala2395Thr) single nucleotide variant not provided [RCV001810670] Chr16:88716066 [GRCh38]
Chr16:88782474 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) single nucleotide variant PIEZO1-related condition [RCV003953632]|not provided [RCV001508787]|not specified [RCV003493841] Chr16:88715700 [GRCh38]
Chr16:88782108 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala) single nucleotide variant Inborn genetic diseases [RCV003166625]|not provided [RCV001573212] Chr16:88721650 [GRCh38]
Chr16:88788058 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001331715] Chr16:88715618 [GRCh38]
Chr16:88782026 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001334827] Chr16:88720640 [GRCh38]
Chr16:88787048 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met) single nucleotide variant not provided [RCV001507358] Chr16:88732511 [GRCh38]
Chr16:88798919 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.65-17C>G single nucleotide variant not provided [RCV001810648] Chr16:88749496 [GRCh38]
Chr16:88815904 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5833TTC[1] (p.Phe1946del) microsatellite not provided [RCV001810705] Chr16:88720496..88720498 [GRCh38]
Chr16:88786904..88786906 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2181-15C>T single nucleotide variant not provided [RCV001539617] Chr16:88734069 [GRCh38]
Chr16:88800477 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) single nucleotide variant Inborn genetic diseases [RCV004036704]|not provided [RCV001354355] Chr16:88716228 [GRCh38]
Chr16:88782636 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5295C>G (p.Asn1765Lys) single nucleotide variant Inborn genetic diseases [RCV003264002]|not provided [RCV001355566] Chr16:88721646 [GRCh38]
Chr16:88788054 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1159G>T (p.Glu387Ter) single nucleotide variant Xerocytosis [RCV001331710] Chr16:88737595 [GRCh38]
Chr16:88804003 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.849-5G>A single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001331716] Chr16:88738110 [GRCh38]
Chr16:88804518 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.*163G>A single nucleotide variant not provided [RCV001642152] Chr16:88715442 [GRCh38]
Chr16:88781850 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1543G>A (p.Asp515Asn) single nucleotide variant not provided [RCV001812373] Chr16:88736162 [GRCh38]
Chr16:88802570 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2860C>A (p.Arg954=) single nucleotide variant not provided [RCV001813097] Chr16:88732466 [GRCh38]
Chr16:88798874 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3699+20G>C single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788455]|Lymphatic malformation 6 [RCV001788456]|not provided [RCV001655712] Chr16:88726695 [GRCh38]
Chr16:88793103 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu) single nucleotide variant not provided [RCV001508788] Chr16:88715797 [GRCh38]
Chr16:88782205 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.881C>T (p.Thr294Ile) single nucleotide variant not provided [RCV001810626] Chr16:88738073 [GRCh38]
Chr16:88804481 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2992-13_2992-12insCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCTCCAGACTCAGTGCATCCCCACGCCCCGCCCTC insertion none provided [RCV001285588] Chr16:88731922..88731923 [GRCh38]
Chr16:88798330..88798331 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.848+17C>T single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788453]|Lymphatic malformation 6 [RCV001788454]|not provided [RCV001692369] Chr16:88738210 [GRCh38]
Chr16:88804618 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3196+19G>T single nucleotide variant not provided [RCV001812284] Chr16:88731687 [GRCh38]
Chr16:88798095 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5937C>G (p.Phe1979Leu) single nucleotide variant not provided [RCV001357505] Chr16:88720397 [GRCh38]
Chr16:88786805 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001269332]|not provided [RCV001812270] Chr16:88722323 [GRCh38]
Chr16:88788731 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001335707]|Inborn genetic diseases [RCV004035794]|PIEZO1-related condition [RCV003973209]|not provided [RCV001509528] Chr16:88720627 [GRCh38]
Chr16:88787035 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6058_6059del (p.Ala2020fs) microsatellite Xerocytosis [RCV001335708] Chr16:88720174..88720175 [GRCh38]
Chr16:88786582..88786583 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.4007T>C (p.Ile1336Thr) single nucleotide variant not provided [RCV001812492] Chr16:88725646 [GRCh38]
Chr16:88792054 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.749_750delinsCT (p.Val250Ala) indel none provided [RCV001286000] Chr16:88738325..88738326 [GRCh38]
Chr16:88804733..88804734 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4163-3C>T single nucleotide variant PIEZO1-related condition [RCV003973181]|not provided [RCV001812478] Chr16:88725083 [GRCh38]
Chr16:88791491 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile) single nucleotide variant not provided [RCV001812954] Chr16:88726565 [GRCh38]
Chr16:88792973 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.146G>A (p.Arg49Gln) single nucleotide variant Inborn genetic diseases [RCV002541774]|not provided [RCV001812971] Chr16:88749398 [GRCh38]
Chr16:88815806 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2164C>A (p.Pro722Thr) single nucleotide variant not provided [RCV001812986] Chr16:88734372 [GRCh38]
Chr16:88800780 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1557+16C>G single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788451]|Lymphatic malformation 6 [RCV001788452]|not provided [RCV001530900] Chr16:88736132 [GRCh38]
Chr16:88802540 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1107+1G>C single nucleotide variant PIEZO1-related condition [RCV003399236]|not provided [RCV003130520]|not specified [RCV001449719] Chr16:88737727 [GRCh38]
Chr16:88804135 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5290G>C (p.Glu1764Gln) single nucleotide variant not provided [RCV001356729] Chr16:88721651 [GRCh38]
Chr16:88788059 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2745C>G (p.Asn915Lys) single nucleotide variant not provided [RCV001507360] Chr16:88732652 [GRCh38]
Chr16:88799060 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2215G>C (p.Glu739Gln) single nucleotide variant not provided [RCV001507363] Chr16:88734020 [GRCh38]
Chr16:88800428 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1558-12C>T single nucleotide variant not provided [RCV001507368] Chr16:88735258 [GRCh38]
Chr16:88801666 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1297-4G>A single nucleotide variant not provided [RCV001507370] Chr16:88736412 [GRCh38]
Chr16:88802820 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1970G>A (p.Arg657His) single nucleotide variant not provided [RCV001356118] Chr16:88734677 [GRCh38]
Chr16:88801085 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3395C>G (p.Thr1132Ser) single nucleotide variant Inborn genetic diseases [RCV002548526]|not provided [RCV001358341] Chr16:88727099 [GRCh38]
Chr16:88793507 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4058+29G>A single nucleotide variant not provided [RCV001508418] Chr16:88725566 [GRCh38]
Chr16:88791974 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3410C>T (p.Pro1137Leu) single nucleotide variant Inborn genetic diseases [RCV002567991]|not provided [RCV001508425] Chr16:88727084 [GRCh38]
Chr16:88793492 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1069G>C (p.Glu357Gln) single nucleotide variant not provided [RCV001507371] Chr16:88737766 [GRCh38]
Chr16:88804174 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.335T>C (p.Leu112Pro) single nucleotide variant not provided [RCV001508796] Chr16:88741608 [GRCh38]
Chr16:88808016 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4027G>A (p.Glu1343Lys) single nucleotide variant Inborn genetic diseases [RCV002564242]|not provided [RCV001508419] Chr16:88725626 [GRCh38]
Chr16:88792034 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2842C>T (p.Arg948Cys) single nucleotide variant not provided [RCV001508428] Chr16:88732484 [GRCh38]
Chr16:88798892 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) single nucleotide variant Blood group, ER [RCV003152632]|ER BLOOD GROUP SYSTEM, ER(a-b-) [RCV003152633]|Inborn genetic diseases [RCV002567998]|PIEZO1-related condition [RCV003394083]|not provided [RCV001508790] Chr16:88716075 [GRCh38]
Chr16:88782483 [GRCh37]
Chr16:16q24.3		 pathogenic|affects|uncertain significance
NM_001142864.4(PIEZO1):c.5802-4G>C single nucleotide variant not provided [RCV001509527] Chr16:88720536 [GRCh38]
Chr16:88786944 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2610G>A (p.Met870Ile) single nucleotide variant Non-immune hydrops fetalis [RCV001376056]|not provided [RCV001865886] Chr16:88733332 [GRCh38]
Chr16:88799740 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_001142864.4(PIEZO1):c.4435A>C (p.Thr1479Pro) single nucleotide variant not provided [RCV001485235] Chr16:88723229 [GRCh38]
Chr16:88789637 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2180+94C>G single nucleotide variant not provided [RCV001536631] Chr16:88734262 [GRCh38]
Chr16:88800670 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1357A>C (p.Ile453Leu) single nucleotide variant not provided [RCV001439483] Chr16:88736348 [GRCh38]
Chr16:88802756 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.3301+55G>A single nucleotide variant not provided [RCV001541038] Chr16:88727502 [GRCh38]
Chr16:88793910 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.9:g.(?_88709737)_(89220635_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388209] Chr16:88709737..89220635 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) single nucleotide variant Non-immune hydrops fetalis [RCV001375989]|not provided [RCV001780276] Chr16:88734931 [GRCh38]
Chr16:88801339 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1537del (p.Cys513fs) deletion not provided [RCV001380953] Chr16:88736168 [GRCh38]
Chr16:88802576 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.326+200A>G single nucleotide variant not provided [RCV001527772] Chr16:88741853 [GRCh38]
Chr16:88808261 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu) single nucleotide variant not provided [RCV001508424] Chr16:88727057 [GRCh38]
Chr16:88793465 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3455+18C>G single nucleotide variant not provided [RCV001508423] Chr16:88727021 [GRCh38]
Chr16:88793429 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2992-18G>A single nucleotide variant not provided [RCV001508426] Chr16:88731928 [GRCh38]
Chr16:88798336 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser) single nucleotide variant Blood group, ER [RCV003152631]|not provided [RCV001508789] Chr16:88716069 [GRCh38]
Chr16:88782477 [GRCh37]
Chr16:16q24.3		 affects|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6943G>C (p.Gly2315Arg) single nucleotide variant not provided [RCV001508793] Chr16:88716467 [GRCh38]
Chr16:88782875 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.848+6G>C single nucleotide variant not provided [RCV001508795] Chr16:88738221 [GRCh38]
Chr16:88804629 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4720G>A (p.Glu1574Lys) single nucleotide variant not provided [RCV001508416] Chr16:88722638 [GRCh38]
Chr16:88789046 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3796+21C>G single nucleotide variant not provided [RCV001508421] Chr16:88726526 [GRCh38]
Chr16:88792934 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3700-14C>T single nucleotide variant not provided [RCV001508422] Chr16:88726657 [GRCh38]
Chr16:88793065 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1557+308C>T single nucleotide variant not provided [RCV001666587] Chr16:88735840 [GRCh38]
Chr16:88802248 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) single nucleotide variant not provided [RCV001509522] Chr16:88716689 [GRCh38]
Chr16:88783097 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6754-14T>C single nucleotide variant not provided [RCV001509523] Chr16:88716745 [GRCh38]
Chr16:88783153 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.465+24G>A single nucleotide variant not provided [RCV001694946] Chr16:88741454 [GRCh38]
Chr16:88807862 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1015G>T (p.Gly339Cys) single nucleotide variant not provided [RCV001508794] Chr16:88737939 [GRCh38]
Chr16:88804347 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2991+118G>A single nucleotide variant not provided [RCV001670931] Chr16:88732217 [GRCh38]
Chr16:88798625 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2991+141C>T single nucleotide variant not provided [RCV001695058] Chr16:88732194 [GRCh38]
Chr16:88798602 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1558-116C>T single nucleotide variant not provided [RCV001654198] Chr16:88735362 [GRCh38]
Chr16:88801770 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2664+202A>C single nucleotide variant not provided [RCV001643342] Chr16:88733076 [GRCh38]
Chr16:88799484 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3301+154G>A single nucleotide variant not provided [RCV001688456] Chr16:88727403 [GRCh38]
Chr16:88793811 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3301+122G>A single nucleotide variant not provided [RCV001619214] Chr16:88727435 [GRCh38]
Chr16:88793843 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.466-87C>T single nucleotide variant not provided [RCV001615697] Chr16:88738823 [GRCh38]
Chr16:88805231 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3797-32G>C single nucleotide variant not provided [RCV001691598] Chr16:88726487 [GRCh38]
Chr16:88792895 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4234+156T>C single nucleotide variant not provided [RCV001652010] Chr16:88724853 [GRCh38]
Chr16:88791261 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4162+61C>T single nucleotide variant not provided [RCV001696134] Chr16:88725355 [GRCh38]
Chr16:88791763 [GRCh37]
Chr16:16q24.3		 benign
NM_001012759.3(CTU2):c.1479-32G>A single nucleotide variant not provided [RCV001653382] Chr16:88715150 [GRCh38]
Chr16:88781558 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4162+127A>G single nucleotide variant not provided [RCV001611691] Chr16:88725289 [GRCh38]
Chr16:88791697 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3700-35GCCCCGCTG[3] microsatellite not provided [RCV001715914] Chr16:88726660..88726661 [GRCh38]
Chr16:88793068..88793069 [GRCh37]
Chr16:16q24.3		 benign
NM_001012759.3(CTU2):c.1419+50_1419+51insTGT insertion not provided [RCV001678616] Chr16:88714976..88714977 [GRCh38]
Chr16:88781384..88781385 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg) single nucleotide variant Inborn genetic diseases [RCV002564153]|not provided [RCV001498402] Chr16:88721277 [GRCh38]
Chr16:88787685 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.2181-148C>A single nucleotide variant not provided [RCV001708749] Chr16:88734202 [GRCh38]
Chr16:88800610 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3301+142G>A single nucleotide variant not provided [RCV001716882] Chr16:88727415 [GRCh38]
Chr16:88793823 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.634+51del deletion not provided [RCV001710705] Chr16:88738517 [GRCh38]
Chr16:88804925 [GRCh37]
Chr16:16q24.3		 benign
NM_001012759.3(CTU2):c.1503G>C (p.Arg501=) single nucleotide variant Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome [RCV001661326]|not provided [RCV001673230] Chr16:88715206 [GRCh38]
Chr16:88781614 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2991+185A>G single nucleotide variant not provided [RCV001540865] Chr16:88732150 [GRCh38]
Chr16:88798558 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6922C>G (p.Gln2308Glu) single nucleotide variant not provided [RCV001509520] Chr16:88716563 [GRCh38]
Chr16:88782971 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His) single nucleotide variant not provided [RCV001509521] Chr16:88716649 [GRCh38]
Chr16:88783057 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5858A>C (p.Lys1953Thr) single nucleotide variant not provided [RCV001509526] Chr16:88720476 [GRCh38]
Chr16:88786884 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) single nucleotide variant ER BLOOD GROUP SYSTEM, ER(a-b-) [RCV003152634]|Lymphatic malformation 6 [RCV003147633]|not provided [RCV001509530] Chr16:88721652 [GRCh38]
Chr16:88788060 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001142864.4(PIEZO1):c.5768C>T (p.Ala1923Val) single nucleotide variant Inborn genetic diseases [RCV002564300]|not provided [RCV001509529] Chr16:88720649 [GRCh38]
Chr16:88787057 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7363G>A (p.Val2455Met) single nucleotide variant not provided [RCV001481873] Chr16:88715808 [GRCh38]
Chr16:88782216 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5716_5738del (p.Pro1906fs) deletion Non-immune hydrops fetalis [RCV001376012] Chr16:88720679..88720701 [GRCh38]
Chr16:88787087..88787109 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.6809T>C (p.Ile2270Thr) single nucleotide variant Non-immune hydrops fetalis [RCV001376013]|PIEZO1-related condition [RCV003908553] Chr16:88716676 [GRCh38]
Chr16:88783084 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser) single nucleotide variant Inborn genetic diseases [RCV003264047]|not provided [RCV001507361] Chr16:88732653 [GRCh38]
Chr16:88799061 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.2132T>C (p.Met711Thr) single nucleotide variant not provided [RCV001507365] Chr16:88734404 [GRCh38]
Chr16:88800812 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys) single nucleotide variant not provided [RCV001507369] Chr16:88736201 [GRCh38]
Chr16:88802609 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3969-159A>C single nucleotide variant not provided [RCV001536525] Chr16:88725843 [GRCh38]
Chr16:88792251 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.161-203G>A single nucleotide variant not provided [RCV001538785] Chr16:88742625 [GRCh38]
Chr16:88809033 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.623_626del (p.Leu208fs) deletion not provided [RCV001384436] Chr16:88738576..88738579 [GRCh38]
Chr16:88804984..88804987 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.4379GGC[1] (p.Arg1461_Arg1462del) microsatellite not provided [RCV001508417] Chr16:88723277..88723282 [GRCh38]
Chr16:88789685..88789690 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3796+21_3796+22delinsTA indel not provided [RCV001508420] Chr16:88726525..88726526 [GRCh38]
Chr16:88792933..88792934 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2879C>T (p.Pro960Leu) single nucleotide variant Inborn genetic diseases [RCV004037888]|not provided [RCV001508427] Chr16:88732447 [GRCh38]
Chr16:88798855 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7501G>A (p.Ala2501Thr) single nucleotide variant Inborn genetic diseases [RCV002564260]|not provided [RCV001508786] Chr16:88715670 [GRCh38]
Chr16:88782078 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met) single nucleotide variant not provided [RCV001508791] Chr16:88716096 [GRCh38]
Chr16:88782504 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7000G>A (p.Ala2334Thr) single nucleotide variant not provided [RCV001508792] Chr16:88716410 [GRCh38]
Chr16:88782818 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2043C>G (p.Phe681Leu) single nucleotide variant not provided [RCV001727006] Chr16:88734493 [GRCh38]
Chr16:88800901 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.88779266_88827672del deletion Mucopolysaccharidosis, MPS-IV-A [RCV001578467] Chr16:88779266..88827672 [GRCh38]
Chr16:16q24.3		 likely pathogenic
NC_000016.10:g.88770428_88832724del deletion Mucopolysaccharidosis, MPS-IV-A [RCV001578468] Chr16:88770428..88832724 [GRCh38]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.3969-14C>T single nucleotide variant not provided [RCV002227326] Chr16:88725698 [GRCh38]
Chr16:88792106 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.120_125dup (p.Leu41_Pro42dup) duplication not provided [RCV002227338] Chr16:88749418..88749419 [GRCh38]
Chr16:88815826..88815827 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2158C>T (p.Arg720Cys) single nucleotide variant not provided [RCV002227339] Chr16:88734378 [GRCh38]
Chr16:88800786 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_87636753)_(90109753_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] Chr16:87636753..90109753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4991del (p.Leu1664fs) deletion not provided [RCV001782618] Chr16:88722031 [GRCh38]
Chr16:88788439 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.3943C>T (p.Gln1315Ter) single nucleotide variant not provided [RCV001782619] Chr16:88726309 [GRCh38]
Chr16:88792717 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly) single nucleotide variant not provided [RCV001758328] Chr16:88716015 [GRCh38]
Chr16:88782423 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1994A>G (p.Glu665Gly) single nucleotide variant PIEZO1-related condition [RCV003956351]|not provided [RCV001767159] Chr16:88734653 [GRCh38]
Chr16:88801061 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5641C>A (p.Pro1881Thr) single nucleotide variant PIEZO1-related condition [RCV003956352]|not provided [RCV001767160] Chr16:88721193 [GRCh38]
Chr16:88787601 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1845C>G (p.Phe615Leu) single nucleotide variant not provided [RCV001767206] Chr16:88734878 [GRCh38]
Chr16:88801286 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3213G>C (p.Trp1071Cys) single nucleotide variant not provided [RCV001754093] Chr16:88727645 [GRCh38]
Chr16:88794053 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2561C>T (p.Ala854Val) single nucleotide variant Inborn genetic diseases [RCV004040297]|not provided [RCV001764142] Chr16:88733381 [GRCh38]
Chr16:88799789 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.946C>T (p.Pro316Ser) single nucleotide variant not provided [RCV001754618] Chr16:88738008 [GRCh38]
Chr16:88804416 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser) single nucleotide variant Inborn genetic diseases [RCV002544313]|not provided [RCV001787636] Chr16:88716054 [GRCh38]
Chr16:88782462 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6616C>T (p.Gln2206Ter) single nucleotide variant not provided [RCV001784830] Chr16:88717067 [GRCh38]
Chr16:88783475 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.3376C>T (p.Arg1126Cys) single nucleotide variant Inborn genetic diseases [RCV002544098]|not provided [RCV001752494] Chr16:88727118 [GRCh38]
Chr16:88793526 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.5341G>A (p.Gly1781Ser) single nucleotide variant Inborn genetic diseases [RCV002539138]|not provided [RCV001767870] Chr16:88721600 [GRCh38]
Chr16:88788008 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg) single nucleotide variant Inborn genetic diseases [RCV004040132]|not provided [RCV001767207] Chr16:88717210 [GRCh38]
Chr16:88783618 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.5060C>T (p.Ser1687Leu) single nucleotide variant not provided [RCV001753967] Chr16:88721962 [GRCh38]
Chr16:88788370 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6733C>T (p.Arg2245Trp) single nucleotide variant not provided [RCV001751897] Chr16:88716826 [GRCh38]
Chr16:88783234 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2908G>C (p.Gly970Arg) single nucleotide variant not provided [RCV001768927] Chr16:88732418 [GRCh38]
Chr16:88798826 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4539C>G (p.Phe1513Leu) single nucleotide variant Inborn genetic diseases [RCV002541331]|PIEZO1-related condition [RCV003892853]|not provided [RCV001800011] Chr16:88722966 [GRCh38]
Chr16:88789374 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3106C>T (p.Arg1036Cys) single nucleotide variant not provided [RCV001765513] Chr16:88731796 [GRCh38]
Chr16:88798204 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1001C>T (p.Ala334Val) single nucleotide variant not provided [RCV001765514] Chr16:88737953 [GRCh38]
Chr16:88804361 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3619G>C (p.Asp1207His) single nucleotide variant not provided [RCV001754092] Chr16:88726795 [GRCh38]
Chr16:88793203 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) single nucleotide variant PIEZO1-related condition [RCV003416451]|not provided [RCV001782616] Chr16:88727163 [GRCh38]
Chr16:88793571 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001142864.4(PIEZO1):c.2257G>T (p.Glu753Ter) single nucleotide variant not provided [RCV001782617] Chr16:88733978 [GRCh38]
Chr16:88800386 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.3969-12G>A single nucleotide variant not provided [RCV001810774] Chr16:88725696 [GRCh38]
Chr16:88792104 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5340C>T (p.Asp1780=) single nucleotide variant not provided [RCV001810804] Chr16:88721601 [GRCh38]
Chr16:88788009 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5134G>C (p.Val1712Leu) single nucleotide variant not provided [RCV001811957] Chr16:88721888 [GRCh38]
Chr16:88788296 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1232C>T (p.Pro411Leu) single nucleotide variant not provided [RCV001812524] Chr16:88736703 [GRCh38]
Chr16:88803111 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1296+13G>T single nucleotide variant not provided [RCV001812541] Chr16:88736626 [GRCh38]
Chr16:88803034 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5632_5633delinsG (p.Lys1878fs) indel not provided [RCV001812551] Chr16:88721201..88721202 [GRCh38]
Chr16:88787609..88787610 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.4496-13C>T single nucleotide variant not provided [RCV001812586] Chr16:88723022 [GRCh38]
Chr16:88789430 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6692C>T (p.Ser2231Phe) single nucleotide variant Inborn genetic diseases [RCV004040250]|not provided [RCV001763769] Chr16:88716867 [GRCh38]
Chr16:88783275 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) duplication Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002503281]|not provided [RCV001795651] Chr16:88715693..88715694 [GRCh38]
Chr16:88782101..88782102 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.2992-23A>G single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001788892]|Lymphatic malformation 6 [RCV001788893]|PIEZO1-related condition [RCV003968553]|not specified [RCV002246505] Chr16:88731933 [GRCh38]
Chr16:88798341 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.150C>T (p.Cys50=) single nucleotide variant not provided [RCV001812612] Chr16:88749394 [GRCh38]
Chr16:88815802 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4744G>A (p.Glu1582Lys) single nucleotide variant PIEZO1-related condition [RCV003911023]|not provided [RCV001816180] Chr16:88722614 [GRCh38]
Chr16:88789022 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3303C>T (p.Ser1101=) single nucleotide variant not provided [RCV001779746] Chr16:88727191 [GRCh38]
Chr16:88793599 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6800C>T (p.Thr2267Met) single nucleotide variant Inborn genetic diseases [RCV003163939]|not provided [RCV001810795] Chr16:88716685 [GRCh38]
Chr16:88783093 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5243A>C (p.Gln1748Pro) single nucleotide variant not provided [RCV001810812] Chr16:88721698 [GRCh38]
Chr16:88788106 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.-18G>A single nucleotide variant not provided [RCV001810766] Chr16:88784982 [GRCh38]
Chr16:88851390 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2247GGA[6] (p.Glu755_Glu756del) microsatellite PIEZO1-related condition [RCV003948736]|not provided [RCV001811746] Chr16:88733965..88733970 [GRCh38]
Chr16:88800373..88800378 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.375C>T (p.Asp125=) single nucleotide variant not provided [RCV001811832] Chr16:88741568 [GRCh38]
Chr16:88807976 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His) single nucleotide variant not provided [RCV001812516] Chr16:88722064 [GRCh38]
Chr16:88788472 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6782G>C (p.Ser2261Thr) single nucleotide variant not provided [RCV001812526] Chr16:88716703 [GRCh38]
Chr16:88783111 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5934C>T (p.Gly1978=) single nucleotide variant not provided [RCV001812527] Chr16:88720400 [GRCh38]
Chr16:88786808 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3672C>T (p.Thr1224=) single nucleotide variant not provided [RCV001812554] Chr16:88726742 [GRCh38]
Chr16:88793150 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7129+3G>A single nucleotide variant PIEZO1-related condition [RCV003913384]|not provided [RCV001812559] Chr16:88716195 [GRCh38]
Chr16:88782603 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4891C>T (p.Arg1631Cys) single nucleotide variant not provided [RCV001812584] Chr16:88722282 [GRCh38]
Chr16:88788690 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4884C>T (p.Pro1628=) single nucleotide variant not provided [RCV001810780] Chr16:88722289 [GRCh38]
Chr16:88788697 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5214+15C>T single nucleotide variant not provided [RCV001811860] Chr16:88721793 [GRCh38]
Chr16:88788201 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6754-15G>A single nucleotide variant not provided [RCV001811953] Chr16:88716746 [GRCh38]
Chr16:88783154 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5507C>A (p.Ala1836Asp) single nucleotide variant not provided [RCV001810768] Chr16:88721327 [GRCh38]
Chr16:88787735 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys) single nucleotide variant not provided [RCV001810783] Chr16:88737966 [GRCh38]
Chr16:88804374 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.3154C>G (p.Gln1052Glu) single nucleotide variant Inborn genetic diseases [RCV004040887]|not provided [RCV001811701] Chr16:88731748 [GRCh38]
Chr16:88798156 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4111C>T (p.Arg1371Cys) single nucleotide variant Inborn genetic diseases [RCV003247028]|not provided [RCV001811702] Chr16:88725467 [GRCh38]
Chr16:88791875 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met) single nucleotide variant Inborn genetic diseases [RCV002541353]|not provided [RCV001811726] Chr16:88735158 [GRCh38]
Chr16:88801566 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln) single nucleotide variant Inborn genetic diseases [RCV003163940]|not provided [RCV001811760] Chr16:88716045 [GRCh38]
Chr16:88782453 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.2992-13_2992-12insCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACG insertion not provided [RCV001811764] Chr16:88731922..88731923 [GRCh38]
Chr16:88798330..88798331 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.64+17C>T single nucleotide variant not provided [RCV001811774] Chr16:88784884 [GRCh38]
Chr16:88851292 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003151865]|PIEZO1-related condition [RCV003976192]|not provided [RCV001811730] Chr16:88716656 [GRCh38]
Chr16:88783064 [GRCh37]
Chr16:16q24.3		 likely pathogenic|benign|likely benign|low penetrance
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu) single nucleotide variant not provided [RCV001811733] Chr16:88715613 [GRCh38]
Chr16:88782021 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.4439-15G>T single nucleotide variant not provided [RCV001811737] Chr16:88723166 [GRCh38]
Chr16:88789574 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4775+9G>A single nucleotide variant PIEZO1-related condition [RCV003931339]|not provided [RCV001811754] Chr16:88722574 [GRCh38]
Chr16:88788982 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6553G>A (p.Ala2185Thr) single nucleotide variant Inborn genetic diseases [RCV004040891]|not provided [RCV001811771] Chr16:88717130 [GRCh38]
Chr16:88783538 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6164+12C>T single nucleotide variant not provided [RCV001811788] Chr16:88720057 [GRCh38]
Chr16:88786465 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5404-1G>C single nucleotide variant not provided [RCV001811814] Chr16:88721431 [GRCh38]
Chr16:88787839 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.5433C>G (p.Asp1811Glu) single nucleotide variant not provided [RCV001811879] Chr16:88721401 [GRCh38]
Chr16:88787809 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val) single nucleotide variant Inborn genetic diseases [RCV004040906]|not provided [RCV003132536]|not specified [RCV001806846] Chr16:88726330 [GRCh38]
Chr16:88792738 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.219C>G (p.Ala73=) single nucleotide variant not provided [RCV001811716] Chr16:88742364 [GRCh38]
Chr16:88808772 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.880A>G (p.Thr294Ala) single nucleotide variant not provided [RCV001811742] Chr16:88738074 [GRCh38]
Chr16:88804482 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4149C>T (p.Pro1383=) single nucleotide variant not provided [RCV001811803] Chr16:88725429 [GRCh38]
Chr16:88791837 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5874C>T (p.Thr1958=) single nucleotide variant not provided [RCV001811819] Chr16:88720460 [GRCh38]
Chr16:88786868 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr) single nucleotide variant Inborn genetic diseases [RCV004040894]|not provided [RCV001811846] Chr16:88732451 [GRCh38]
Chr16:88798859 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6892G>A (p.Asp2298Asn) single nucleotide variant PIEZO1-related condition [RCV003401724]|not provided [RCV001811856] Chr16:88716593 [GRCh38]
Chr16:88783001 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1558-19del deletion not provided [RCV001811872] Chr16:88735265 [GRCh38]
Chr16:88801673 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4284G>A (p.Glu1428=) single nucleotide variant not provided [RCV001810809] Chr16:88723922 [GRCh38]
Chr16:88790330 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2059C>T (p.Pro687Ser) single nucleotide variant not provided [RCV001811708] Chr16:88734477 [GRCh38]
Chr16:88800885 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3083G>A (p.Arg1028His) single nucleotide variant not provided [RCV001811787] Chr16:88731819 [GRCh38]
Chr16:88798227 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1679G>A (p.Arg560Gln) single nucleotide variant Inborn genetic diseases [RCV002542343]|not provided [RCV001811936] Chr16:88735044 [GRCh38]
Chr16:88801452 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr) single nucleotide variant not provided [RCV001811707] Chr16:88721178 [GRCh38]
Chr16:88787586 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln) single nucleotide variant not provided [RCV001811830] Chr16:88716080 [GRCh38]
Chr16:88782488 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6750G>A (p.Gln2250=) single nucleotide variant not provided [RCV001811841] Chr16:88716809 [GRCh38]
Chr16:88783217 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile) single nucleotide variant Inborn genetic diseases [RCV003163941]|not provided [RCV001811845] Chr16:88733352 [GRCh38]
Chr16:88799760 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6471+3G>A single nucleotide variant not provided [RCV001811928] Chr16:88719571 [GRCh38]
Chr16:88785979 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.9:g.(?_88798723)_(88909257_?)dup duplication Mucopolysaccharidosis, MPS-IV-A [RCV001875013]|not provided [RCV001875014] Chr16:88798723..88909257 [GRCh37]
Chr16:16q24.3		 uncertain significance|no classifications from unflagged records
NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys) single nucleotide variant not provided [RCV002045551] Chr16:88734369 [GRCh38]
Chr16:88800777 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3 copy number gain not provided [RCV001829158] Chr16:88000389..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5668+3A>G single nucleotide variant not provided [RCV001910831] Chr16:88721163 [GRCh38]
Chr16:88787571 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:88801603-89509853) copy number gain not specified [RCV002052562] Chr16:88801603..89509853 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.307C>T (p.Arg103Ter) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV001849890] Chr16:88742072 [GRCh38]
Chr16:88808480 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_88709761)_(89623501_?)dup duplication Hereditary spastic paraplegia 7 [RCV002020725] Chr16:88709761..89623501 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5284C>T (p.Arg1762Cys) single nucleotide variant not provided [RCV002024537]|not specified [RCV003493907] Chr16:88721657 [GRCh38]
Chr16:88788065 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4117C>T (p.Arg1373Cys) single nucleotide variant Inborn genetic diseases [RCV004040545]|not provided [RCV001872849] Chr16:88725461 [GRCh38]
Chr16:88791869 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.848+5C>T single nucleotide variant not provided [RCV001921615] Chr16:88738222 [GRCh38]
Chr16:88804630 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1550G>A (p.Gly517Asp) single nucleotide variant not provided [RCV002001070] Chr16:88736155 [GRCh38]
Chr16:88802563 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6262C>G (p.Arg2088Gly) single nucleotide variant PIEZO1-related condition [RCV003418353]|not provided [RCV002036423] Chr16:88719863 [GRCh38]
Chr16:88786271 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.3416G>A (p.Arg1139Gln) single nucleotide variant PIEZO1-related condition [RCV003407870]|not provided [RCV001880786] Chr16:88727078 [GRCh38]
Chr16:88793486 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu) single nucleotide variant PIEZO1-related condition [RCV003913477]|not provided [RCV001989258] Chr16:88722882 [GRCh38]
Chr16:88789290 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NC_000016.9:g.(?_87636753)_(89723996_?)dup duplication Mucopolysaccharidosis, MPS-IV-A [RCV001939908] Chr16:87636753..89723996 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu) single nucleotide variant Inborn genetic diseases [RCV004042714]|not provided [RCV001906948] Chr16:88721629 [GRCh38]
Chr16:88788037 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6494AGA[6] (p.Lys2169dup) microsatellite not provided [RCV001991397] Chr16:88717174..88717175 [GRCh38]
Chr16:88783582..88783583 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5762G>A (p.Arg1921Lys) single nucleotide variant not provided [RCV001879253] Chr16:88720655 [GRCh38]
Chr16:88787063 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1]) microsatellite Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002482435]|not provided [RCV002051388] Chr16:88723259..88723264 [GRCh38]
Chr16:88789667..88789672 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_88782947)_(88878307_?)del deletion not provided [RCV001953474] Chr16:88782947..88878307 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln) single nucleotide variant not provided [RCV002016962] Chr16:88732638 [GRCh38]
Chr16:88799046 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=) single nucleotide variant PIEZO1-related condition [RCV003913681]|not provided [RCV002105420] Chr16:88722843 [GRCh38]
Chr16:88789251 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6872A>C (p.Glu2291Ala) single nucleotide variant not provided [RCV002224873] Chr16:88716613 [GRCh38]
Chr16:88783021 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6660+13G>T single nucleotide variant not provided [RCV002208215] Chr16:88717010 [GRCh38]
Chr16:88783418 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.90C>T (p.Leu30=) single nucleotide variant not provided [RCV002109243] Chr16:88749454 [GRCh38]
Chr16:88815862 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4036T>G (p.Ser1346Ala) single nucleotide variant Inborn genetic diseases [RCV003007087]|not provided [RCV002091164] Chr16:88725617 [GRCh38]
Chr16:88792025 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7092C>A (p.Asn2364Lys) single nucleotide variant not provided [RCV002211370] Chr16:88716235 [GRCh38]
Chr16:88782643 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4981G>A (p.Glu1661Lys) single nucleotide variant not provided [RCV002211371] Chr16:88722041 [GRCh38]
Chr16:88788449 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1296+8G>T single nucleotide variant not provided [RCV002211372] Chr16:88736631 [GRCh38]
Chr16:88803039 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3700-26_3700-18del microsatellite not provided [RCV002205718] Chr16:88726661..88726669 [GRCh38]
Chr16:88793069..88793077 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7129+5G>A single nucleotide variant not provided [RCV002224572] Chr16:88716193 [GRCh38]
Chr16:88782601 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4713C>G (p.Ser1571Arg) single nucleotide variant Inborn genetic diseases [RCV002993438]|not provided [RCV002207391] Chr16:88722645 [GRCh38]
Chr16:88789053 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.7387T>G (p.Ser2463Ala) single nucleotide variant not provided [RCV002227322] Chr16:88715784 [GRCh38]
Chr16:88782192 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7431C>G (p.Ile2477Met) single nucleotide variant not provided [RCV002227332] Chr16:88715740 [GRCh38]
Chr16:88782148 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5598G>C (p.Thr1866=) single nucleotide variant not provided [RCV002227336] Chr16:88721236 [GRCh38]
Chr16:88787644 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3699+6C>T single nucleotide variant PIEZO1-related condition [RCV003926333]|not provided [RCV002227388] Chr16:88726709 [GRCh38]
Chr16:88793117 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.5169G>A (p.Pro1723=) single nucleotide variant not provided [RCV002208536] Chr16:88721853 [GRCh38]
Chr16:88788261 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) single nucleotide variant Inborn genetic diseases [RCV003015332]|PIEZO1-related condition [RCV003903378]|not provided [RCV002115630] Chr16:88732344 [GRCh38]
Chr16:88798752 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.812C>T (p.Ala271Val) single nucleotide variant not provided [RCV002211373] Chr16:88738263 [GRCh38]
Chr16:88804671 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3699+20del deletion not provided [RCV002127094] Chr16:88726695 [GRCh38]
Chr16:88793103 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1207C>T (p.Arg403Trp) single nucleotide variant not provided [RCV002145015] Chr16:88736728 [GRCh38]
Chr16:88803136 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2790+18T>A single nucleotide variant not provided [RCV002131384] Chr16:88732589 [GRCh38]
Chr16:88798997 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6661-18T>G single nucleotide variant not provided [RCV002123570] Chr16:88716916 [GRCh38]
Chr16:88783324 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1296+12T>C single nucleotide variant not provided [RCV002216438] Chr16:88736627 [GRCh38]
Chr16:88803035 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3432C>T (p.Pro1144=) single nucleotide variant not provided [RCV002101833] Chr16:88727062 [GRCh38]
Chr16:88793470 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2124C>T (p.Leu708=) single nucleotide variant not provided [RCV002100768] Chr16:88734412 [GRCh38]
Chr16:88800820 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3699+14C>A single nucleotide variant not provided [RCV002118648] Chr16:88726701 [GRCh38]
Chr16:88793109 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4059-9_4059-8del deletion not provided [RCV002155237] Chr16:88725527..88725528 [GRCh38]
Chr16:88791935..88791936 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.4955+14G>A single nucleotide variant not provided [RCV002181409] Chr16:88722204 [GRCh38]
Chr16:88788612 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7380C>G (p.Ser2460Arg) single nucleotide variant Hemolytic anemia [RCV002222276]|PIEZO1-related condition [RCV003408170] Chr16:88715791 [GRCh38]
Chr16:88782199 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) single nucleotide variant Inborn genetic diseases [RCV003101295]|not provided [RCV002227324] Chr16:88732666 [GRCh38]
Chr16:88799074 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.4059-10C>A single nucleotide variant not provided [RCV002180028] Chr16:88725529 [GRCh38]
Chr16:88791937 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7129+14T>C single nucleotide variant not provided [RCV002204070] Chr16:88716184 [GRCh38]
Chr16:88782592 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4163-14C>T single nucleotide variant not provided [RCV002118629] Chr16:88725094 [GRCh38]
Chr16:88791502 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1375C>T (p.Arg459Cys) single nucleotide variant not provided [RCV003112497] Chr16:88736330 [GRCh38]
Chr16:88802738 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.7462C>T (p.Arg2488Trp) single nucleotide variant not provided [RCV003115953] Chr16:88715709 [GRCh38]
Chr16:88782117 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.1848+15G>A single nucleotide variant not provided [RCV003120104] Chr16:88734860 [GRCh38]
Chr16:88801268 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4212G>C (p.Arg1404=) single nucleotide variant not provided [RCV003120106] Chr16:88725031 [GRCh38]
Chr16:88791439 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2946C>T (p.Cys982=) single nucleotide variant not provided [RCV003120111] Chr16:88732380 [GRCh38]
Chr16:88798788 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro) single nucleotide variant PIEZO1-related condition [RCV003946438]|not provided [RCV003120117] Chr16:88716599 [GRCh38]
Chr16:88783007 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.4041G>A (p.Leu1347=) single nucleotide variant not provided [RCV003120130] Chr16:88725612 [GRCh38]
Chr16:88792020 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro) single nucleotide variant Lymphatic malformation 6 [RCV003333240]|not provided [RCV003120152] Chr16:88722949 [GRCh38]
Chr16:88789357 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2722C>T (p.Arg908Trp) single nucleotide variant not provided [RCV003120155] Chr16:88732675 [GRCh38]
Chr16:88799083 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3048C>A (p.Thr1016=) single nucleotide variant not provided [RCV003120161] Chr16:88731854 [GRCh38]
Chr16:88798262 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6353T>A (p.Leu2118Gln) single nucleotide variant not provided [RCV003120204] Chr16:88719692 [GRCh38]
Chr16:88786100 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5475G>A (p.Gln1825=) single nucleotide variant not provided [RCV003120254] Chr16:88721359 [GRCh38]
Chr16:88787767 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=) single nucleotide variant not provided [RCV003120270] Chr16:88720639 [GRCh38]
Chr16:88787047 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln) single nucleotide variant PIEZO1-related condition [RCV003410263]|not provided [RCV003120283] Chr16:88716403 [GRCh38]
Chr16:88782811 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5214+16G>T single nucleotide variant not provided [RCV003120298] Chr16:88721792 [GRCh38]
Chr16:88788200 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp) single nucleotide variant not provided [RCV003120326] Chr16:88719717 [GRCh38]
Chr16:88786125 [GRCh37]
Chr16:16q24.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.3196+12G>A single nucleotide variant not provided [RCV003120329] Chr16:88731694 [GRCh38]
Chr16:88798102 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4215C>G (p.Pro1405=) single nucleotide variant not provided [RCV003120335] Chr16:88725028 [GRCh38]
Chr16:88791436 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3625C>T (p.Arg1209Trp) single nucleotide variant PIEZO1-related condition [RCV003395699]|not provided [RCV003120357] Chr16:88726789 [GRCh38]
Chr16:88793197 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001012759.3(CTU2):c.1509_1512dup (p.Ile505fs) duplication not provided [RCV003319680] Chr16:88715208..88715209 [GRCh38]
Chr16:88781616..88781617 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1930G>C (p.Val644Leu) single nucleotide variant not specified [RCV003320512] Chr16:88734717 [GRCh38]
Chr16:88801125 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2838C>A (p.Tyr946Ter) single nucleotide variant Lymphatic malformation 6 [RCV003147850] Chr16:88732488 [GRCh38]
Chr16:88798896 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.2546G>A (p.Arg849His) single nucleotide variant Inborn genetic diseases [RCV003358142]|not provided [RCV003134889] Chr16:88733396 [GRCh38]
Chr16:88799804 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys) single nucleotide variant Blood group, ER [RCV003152450]|not provided [RCV003491338] Chr16:88716030 [GRCh38]
Chr16:88782438 [GRCh37]
Chr16:16q24.3		 affects|uncertain significance
PIEZO1, ARG2245GLN (rs2290901) single nucleotide variant Blood group, ER [RCV003152451]   affects
NM_001142864.4(PIEZO1):c.4668+12C>T single nucleotide variant not provided [RCV002227309] Chr16:88722825 [GRCh38]
Chr16:88789233 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6906C>T (p.Arg2302=) single nucleotide variant not provided [RCV002227323] Chr16:88716579 [GRCh38]
Chr16:88782987 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5464G>C (p.Glu1822Gln) single nucleotide variant not provided [RCV002227331] Chr16:88721370 [GRCh38]
Chr16:88787778 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4058+1G>C single nucleotide variant Lymphatic malformation 6 [RCV003153144] Chr16:88725594 [GRCh38]
Chr16:88792002 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG indel not provided [RCV002227310] Chr16:88726694..88726695 [GRCh38]
Chr16:88793102..88793103 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6333G>A (p.Leu2111=) single nucleotide variant not provided [RCV002227341] Chr16:88719712 [GRCh38]
Chr16:88786120 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5272G>C (p.Val1758Leu) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002243588] Chr16:88721669 [GRCh38]
Chr16:88788077 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4341del (p.Tyr1448fs) deletion Lymphatic malformation 6 [RCV003233377] Chr16:88723323 [GRCh38]
Chr16:88789731 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.4579C>T (p.Arg1527Cys) single nucleotide variant not provided [RCV003131918] Chr16:88722926 [GRCh38]
Chr16:88789334 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7507C>T (p.Leu2503Phe) single nucleotide variant not provided [RCV003131919] Chr16:88715664 [GRCh38]
Chr16:88782072 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2252A>C (p.Glu751Ala) single nucleotide variant not provided [RCV003131923] Chr16:88733983 [GRCh38]
Chr16:88800391 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3542G>A (p.Arg1181His) single nucleotide variant not provided [RCV003131924] Chr16:88726872 [GRCh38]
Chr16:88793280 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4559C>G (p.Ala1520Gly) single nucleotide variant not provided [RCV003131936] Chr16:88722946 [GRCh38]
Chr16:88789354 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5527C>G (p.Gln1843Glu) single nucleotide variant not provided [RCV003131938] Chr16:88721307 [GRCh38]
Chr16:88787715 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.88365786_89584412del1218627 deletion KBG syndrome [RCV002275248] Chr16:88365786..89584412 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.6574C>A (p.Leu2192Ile) single nucleotide variant not provided [RCV002261542] Chr16:88717109 [GRCh38]
Chr16:88783517 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4904C>G (p.Ala1635Gly) single nucleotide variant not provided [RCV002261546] Chr16:88722269 [GRCh38]
Chr16:88788677 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7351A>G (p.Ile2451Val) single nucleotide variant not provided [RCV002261538] Chr16:88715820 [GRCh38]
Chr16:88782228 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6165-5C>T single nucleotide variant not provided [RCV002261543] Chr16:88719965 [GRCh38]
Chr16:88786373 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4669-5T>G single nucleotide variant not provided [RCV002261547] Chr16:88722694 [GRCh38]
Chr16:88789102 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1196-4G>C single nucleotide variant not provided [RCV002261553] Chr16:88736743 [GRCh38]
Chr16:88803151 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2909G>A (p.Gly970Asp) single nucleotide variant not provided [RCV002261550] Chr16:88732417 [GRCh38]
Chr16:88798825 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile) single nucleotide variant PIEZO1-related condition [RCV003896094]|not provided [RCV002261552] Chr16:88736372 [GRCh38]
Chr16:88802780 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6771C>T (p.Ile2257=) single nucleotide variant not provided [RCV002261541] Chr16:88716714 [GRCh38]
Chr16:88783122 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5105C>T (p.Thr1702Met) single nucleotide variant Inborn genetic diseases [RCV003101450]|not provided [RCV002261545] Chr16:88721917 [GRCh38]
Chr16:88788325 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.65-17C>T single nucleotide variant not provided [RCV002261554] Chr16:88749496 [GRCh38]
Chr16:88815904 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1297-1G>A single nucleotide variant Lymphatic malformation 6 [RCV002272653] Chr16:88736409 [GRCh38]
Chr16:88802817 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.7102G>A (p.Ala2368Thr) single nucleotide variant not provided [RCV002267263] Chr16:88716225 [GRCh38]
Chr16:88782633 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6992A>G (p.Asn2331Ser) single nucleotide variant not provided [RCV002261540] Chr16:88716418 [GRCh38]
Chr16:88782826 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5290G>A (p.Glu1764Lys) single nucleotide variant not provided [RCV002261544] Chr16:88721651 [GRCh38]
Chr16:88788059 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4914C>G (p.Tyr1638Ter) single nucleotide variant Lymphatic malformation 6 [RCV003236246] Chr16:88722259 [GRCh38]
Chr16:88788667 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.113TGC[3] (p.Leu41del) microsatellite Lymphatic malformation 6 [RCV003236247] Chr16:88749420..88749422 [GRCh38]
Chr16:88815828..88815830 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.7316+4AGTG[3] microsatellite not provided [RCV002261539] Chr16:88715921..88715922 [GRCh38]
Chr16:88782329..88782330 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.4444G>T (p.Gly1482Cys) single nucleotide variant not provided [RCV002261548] Chr16:88723146 [GRCh38]
Chr16:88789554 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1442G>A (p.Arg481His) single nucleotide variant not provided [RCV002261551] Chr16:88736263 [GRCh38]
Chr16:88802671 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.2664G>A (p.Glu888=) single nucleotide variant Lymphatic malformation 6 [RCV002289404] Chr16:88733278 [GRCh38]
Chr16:88799686 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6901_6912del (p.Leu2301_Thr2304del) deletion Lymphatic malformation 6 [RCV002289405] Chr16:88716573..88716584 [GRCh38]
Chr16:88782981..88782992 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV002286446]|not provided [RCV002293594] Chr16:88736324 [GRCh38]
Chr16:88802732 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.1499G>C (p.Ser500Thr) single nucleotide variant not provided [RCV002265253] Chr16:88736206 [GRCh38]
Chr16:88802614 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7540A>C (p.Ile2514Leu) single nucleotide variant not provided [RCV002261536] Chr16:88715631 [GRCh38]
Chr16:88782039 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7354G>A (p.Gly2452Ser) single nucleotide variant not provided [RCV002261537] Chr16:88715817 [GRCh38]
Chr16:88782225 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4235-23C>G single nucleotide variant not provided [RCV002261549] Chr16:88723994 [GRCh38]
Chr16:88790402 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.2776C>G (p.Leu926Val) single nucleotide variant not provided [RCV002273669] Chr16:88732621 [GRCh38]
Chr16:88799029 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5224GTC[1] (p.Val1743del) microsatellite not provided [RCV003233376] Chr16:88721712..88721714 [GRCh38]
Chr16:88788120..88788122 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2545C>T (p.Arg849Cys) single nucleotide variant not provided [RCV003154341] Chr16:88733397 [GRCh38]
Chr16:88799805 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6059C>T (p.Ala2020Val) single nucleotide variant not provided [RCV002307467] Chr16:88720174 [GRCh38]
Chr16:88786582 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2896G>A (p.Val966Met) single nucleotide variant not provided [RCV002306338] Chr16:88732430 [GRCh38]
Chr16:88798838 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6407G>T (p.Trp2136Leu) single nucleotide variant not provided [RCV002298200] Chr16:88719638 [GRCh38]
Chr16:88786046 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3137C>T (p.Ala1046Val) single nucleotide variant Inborn genetic diseases [RCV002859852]|not provided [RCV003883905] Chr16:88731765 [GRCh38]
Chr16:88798173 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.4881C>A (p.Asp1627Glu) single nucleotide variant Inborn genetic diseases [RCV002749500] Chr16:88722292 [GRCh38]
Chr16:88788700 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7427G>A (p.Arg2476His) single nucleotide variant Inborn genetic diseases [RCV002771967] Chr16:88715744 [GRCh38]
Chr16:88782152 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5960C>T (p.Ala1987Val) single nucleotide variant Inborn genetic diseases [RCV002729848]|not provided [RCV003561167] Chr16:88720273 [GRCh38]
Chr16:88786681 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.2387C>T (p.Ser796Leu) single nucleotide variant Inborn genetic diseases [RCV002771742] Chr16:88733688 [GRCh38]
Chr16:88800096 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5597C>T (p.Thr1866Met) single nucleotide variant Inborn genetic diseases [RCV002774105] Chr16:88721237 [GRCh38]
Chr16:88787645 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4370C>T (p.Ala1457Val) single nucleotide variant Inborn genetic diseases [RCV002773779]|PIEZO1-related condition [RCV003410253] Chr16:88723294 [GRCh38]
Chr16:88789702 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCA indel not provided [RCV002775827] Chr16:88726694..88726695 [GRCh38]
Chr16:88793102..88793103 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2781C>T (p.Gly927=) single nucleotide variant not provided [RCV002615222] Chr16:88732616 [GRCh38]
Chr16:88799024 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1839C>T (p.Thr613=) single nucleotide variant not provided [RCV002613927] Chr16:88734884 [GRCh38]
Chr16:88801292 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.427G>A (p.Ala143Thr) single nucleotide variant Inborn genetic diseases [RCV002616154]|not provided [RCV002616153] Chr16:88741516 [GRCh38]
Chr16:88807924 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3326C>T (p.Ala1109Val) single nucleotide variant Inborn genetic diseases [RCV002990191]|not provided [RCV003491297] Chr16:88727168 [GRCh38]
Chr16:88793576 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7235G>A (p.Arg2412Gln) single nucleotide variant Inborn genetic diseases [RCV002864171] Chr16:88716014 [GRCh38]
Chr16:88782422 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6539T>G (p.Ile2180Ser) single nucleotide variant not provided [RCV002843146] Chr16:88717144 [GRCh38]
Chr16:88783552 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2765G>C (p.Gly922Ala) single nucleotide variant Inborn genetic diseases [RCV002997212]|not provided [RCV003481431] Chr16:88732632 [GRCh38]
Chr16:88799040 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7469C>T (p.Thr2490Ile) single nucleotide variant Inborn genetic diseases [RCV002686903] Chr16:88715702 [GRCh38]
Chr16:88782110 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3603G>A (p.Thr1201=) single nucleotide variant not provided [RCV003075857] Chr16:88726811 [GRCh38]
Chr16:88793219 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2233CAG[6] (p.Gln749_Glu750insGln) microsatellite PIEZO1-related condition [RCV003943760]|not provided [RCV003075529] Chr16:88733987..88733988 [GRCh38]
Chr16:88800395..88800396 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.2326G>C (p.Glu776Gln) single nucleotide variant Inborn genetic diseases [RCV002732950] Chr16:88733909 [GRCh38]
Chr16:88800317 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7440C>G (p.Leu2480=) single nucleotide variant not provided [RCV002636182] Chr16:88715731 [GRCh38]
Chr16:88782139 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6581T>A (p.Met2194Lys) single nucleotide variant not provided [RCV002819672] Chr16:88717102 [GRCh38]
Chr16:88783510 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.900C>T (p.His300=) single nucleotide variant not provided [RCV002971666] Chr16:88738054 [GRCh38]
Chr16:88804462 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5545G>A (p.Gly1849Arg) single nucleotide variant Inborn genetic diseases [RCV002778519] Chr16:88721289 [GRCh38]
Chr16:88787697 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln) single nucleotide variant not provided [RCV002908711] Chr16:88733987 [GRCh38]
Chr16:88800395 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7561G>C (p.Glu2521Gln) single nucleotide variant Inborn genetic diseases [RCV002903344]|not provided [RCV002895423] Chr16:88715610 [GRCh38]
Chr16:88782018 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.5106G>A (p.Thr1702=) single nucleotide variant not provided [RCV003075135] Chr16:88721916 [GRCh38]
Chr16:88788324 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3809T>C (p.Met1270Thr) single nucleotide variant Inborn genetic diseases [RCV002839877] Chr16:88726443 [GRCh38]
Chr16:88792851 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6660G>C (p.Glu2220Asp) single nucleotide variant not provided [RCV002995700] Chr16:88717023 [GRCh38]
Chr16:88783431 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4768G>A (p.Val1590Met) single nucleotide variant Inborn genetic diseases [RCV002839920] Chr16:88722590 [GRCh38]
Chr16:88788998 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.955C>G (p.Leu319Val) single nucleotide variant Inborn genetic diseases [RCV002818846] Chr16:88737999 [GRCh38]
Chr16:88804407 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3744C>T (p.Cys1248=) single nucleotide variant not provided [RCV002730915] Chr16:88726599 [GRCh38]
Chr16:88793007 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4690G>A (p.Val1564Met) single nucleotide variant Inborn genetic diseases [RCV002752690] Chr16:88722668 [GRCh38]
Chr16:88789076 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2213G>A (p.Arg738Gln) single nucleotide variant Inborn genetic diseases [RCV002754236] Chr16:88734022 [GRCh38]
Chr16:88800430 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2440G>A (p.Val814Ile) single nucleotide variant Inborn genetic diseases [RCV002687270]|PIEZO1-related condition [RCV003410153] Chr16:88733635 [GRCh38]
Chr16:88800043 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.5704G>A (p.Glu1902Lys) single nucleotide variant Inborn genetic diseases [RCV002879760] Chr16:88720713 [GRCh38]
Chr16:88787121 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2696C>T (p.Thr899Met) single nucleotide variant not provided [RCV002616084] Chr16:88732701 [GRCh38]
Chr16:88799109 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1729G>A (p.Ala577Thr) single nucleotide variant Inborn genetic diseases [RCV002992635] Chr16:88734994 [GRCh38]
Chr16:88801402 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln) single nucleotide variant Inborn genetic diseases [RCV002683853]|not provided [RCV003135269] Chr16:88726788 [GRCh38]
Chr16:88793196 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.3632G>A (p.Arg1211His) single nucleotide variant Inborn genetic diseases [RCV002683918]|PIEZO1-related condition [RCV003946403]|not provided [RCV003135270] Chr16:88726782 [GRCh38]
Chr16:88793190 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3923T>C (p.Leu1308Pro) single nucleotide variant Inborn genetic diseases [RCV002734507] Chr16:88726329 [GRCh38]
Chr16:88792737 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.458G>A (p.Arg153Gln) single nucleotide variant Inborn genetic diseases [RCV002779836] Chr16:88741485 [GRCh38]
Chr16:88807893 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7365G>A (p.Val2455=) single nucleotide variant PIEZO1-related condition [RCV003916746]|not provided [RCV003075786] Chr16:88715806 [GRCh38]
Chr16:88782214 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6231C>G (p.Ser2077=) single nucleotide variant not provided [RCV002996392] Chr16:88719894 [GRCh38]
Chr16:88786302 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3274C>T (p.Arg1092Trp) single nucleotide variant Inborn genetic diseases [RCV002688068]|not provided [RCV003140156] Chr16:88727584 [GRCh38]
Chr16:88793992 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1183C>A (p.Leu395Met) single nucleotide variant Inborn genetic diseases [RCV002732912] Chr16:88737571 [GRCh38]
Chr16:88803979 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1129G>A (p.Asp377Asn) single nucleotide variant Inborn genetic diseases [RCV002849461] Chr16:88737625 [GRCh38]
Chr16:88804033 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6104T>G (p.Val2035Gly) single nucleotide variant Inborn genetic diseases [RCV002823143] Chr16:88720129 [GRCh38]
Chr16:88786537 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2839C>T (p.Arg947Trp) single nucleotide variant Inborn genetic diseases [RCV002708378] Chr16:88732487 [GRCh38]
Chr16:88798895 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6460G>A (p.Glu2154Lys) single nucleotide variant Inborn genetic diseases [RCV002981408] Chr16:88719585 [GRCh38]
Chr16:88785993 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.730G>A (p.Gly244Ser) single nucleotide variant not provided [RCV002948818] Chr16:88738345 [GRCh38]
Chr16:88804753 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3700-13_3700-5dup duplication not provided [RCV002889325] Chr16:88726647..88726648 [GRCh38]
Chr16:88793055..88793056 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6652G>A (p.Gly2218Ser) single nucleotide variant Inborn genetic diseases [RCV002786094]|not provided [RCV002786093] Chr16:88717031 [GRCh38]
Chr16:88783439 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.160+20C>G single nucleotide variant not provided [RCV002795764] Chr16:88749364 [GRCh38]
Chr16:88815772 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1657G>A (p.Val553Met) single nucleotide variant Inborn genetic diseases [RCV002739267]|PIEZO1-related condition [RCV003963788] Chr16:88735147 [GRCh38]
Chr16:88801555 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3810G>A (p.Met1270Ile) single nucleotide variant Inborn genetic diseases [RCV002785092] Chr16:88726442 [GRCh38]
Chr16:88792850 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5770G>A (p.Gly1924Arg) single nucleotide variant Inborn genetic diseases [RCV002981029] Chr16:88720647 [GRCh38]
Chr16:88787055 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.166A>C (p.Thr56Pro) single nucleotide variant Inborn genetic diseases [RCV002978059] Chr16:88742417 [GRCh38]
Chr16:88808825 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7061A>G (p.Asn2354Ser) single nucleotide variant not provided [RCV002927969] Chr16:88716266 [GRCh38]
Chr16:88782674 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1998-12G>T single nucleotide variant not provided [RCV002843965] Chr16:88734550 [GRCh38]
Chr16:88800958 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2476G>A (p.Ala826Thr) single nucleotide variant Inborn genetic diseases [RCV002910782] Chr16:88733599 [GRCh38]
Chr16:88800007 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4668+13G>A single nucleotide variant not provided [RCV002795304] Chr16:88722824 [GRCh38]
Chr16:88789232 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4743C>T (p.Thr1581=) single nucleotide variant PIEZO1-related condition [RCV003936548]|not provided [RCV003080168] Chr16:88722615 [GRCh38]
Chr16:88789023 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4998G>C (p.Ala1666=) single nucleotide variant not provided [RCV002885512] Chr16:88722024 [GRCh38]
Chr16:88788432 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2827G>A (p.Ala943Thr) single nucleotide variant Inborn genetic diseases [RCV002976732] Chr16:88732499 [GRCh38]
Chr16:88798907 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1162C>G (p.Leu388Val) single nucleotide variant not provided [RCV002691089] Chr16:88737592 [GRCh38]
Chr16:88804000 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3783G>C (p.Lys1261Asn) single nucleotide variant Inborn genetic diseases [RCV002952341]|PIEZO1-related condition [RCV003427644]|not provided [RCV003738335] Chr16:88726560 [GRCh38]
Chr16:88792968 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4666C>T (p.Gln1556Ter) single nucleotide variant not provided [RCV002824058] Chr16:88722839 [GRCh38]
Chr16:88789247 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu) single nucleotide variant Inborn genetic diseases [RCV002602728]|not provided [RCV002619172] Chr16:88721270 [GRCh38]
Chr16:88787678 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.4245C>T (p.Ser1415=) single nucleotide variant not provided [RCV002619173] Chr16:88723961 [GRCh38]
Chr16:88790369 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2872C>G (p.Leu958Val) single nucleotide variant Inborn genetic diseases [RCV002759216] Chr16:88732454 [GRCh38]
Chr16:88798862 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2128G>A (p.Asp710Asn) single nucleotide variant Inborn genetic diseases [RCV002704851] Chr16:88734408 [GRCh38]
Chr16:88800816 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2840G>A (p.Arg947Gln) single nucleotide variant Inborn genetic diseases [RCV002660003] Chr16:88732486 [GRCh38]
Chr16:88798894 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4609G>C (p.Gly1537Arg) single nucleotide variant Inborn genetic diseases [RCV002912071]|not provided [RCV003135255] Chr16:88722896 [GRCh38]
Chr16:88789304 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.3016G>A (p.Val1006Met) single nucleotide variant Inborn genetic diseases [RCV002797921]|not provided [RCV003738313] Chr16:88731886 [GRCh38]
Chr16:88798294 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.145C>T (p.Arg49Ter) single nucleotide variant not provided [RCV002637435] Chr16:88749399 [GRCh38]
Chr16:88815807 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.457C>T (p.Arg153Trp) single nucleotide variant Inborn genetic diseases [RCV002799024] Chr16:88741486 [GRCh38]
Chr16:88807894 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2012G>A (p.Gly671Asp) single nucleotide variant Inborn genetic diseases [RCV002844171] Chr16:88734524 [GRCh38]
Chr16:88800932 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1206G>C (p.Lys402Asn) single nucleotide variant Inborn genetic diseases [RCV002911339] Chr16:88736729 [GRCh38]
Chr16:88803137 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3631C>T (p.Arg1211Cys) single nucleotide variant not provided [RCV002886509] Chr16:88726783 [GRCh38]
Chr16:88793191 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.4496-4G>A single nucleotide variant not provided [RCV002736857] Chr16:88723013 [GRCh38]
Chr16:88789421 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2545C>G (p.Arg849Gly) single nucleotide variant Inborn genetic diseases [RCV002887133] Chr16:88733397 [GRCh38]
Chr16:88799805 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6739T>C (p.Phe2247Leu) single nucleotide variant Inborn genetic diseases [RCV002821682] Chr16:88716820 [GRCh38]
Chr16:88783228 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2354C>T (p.Ala785Val) single nucleotide variant not provided [RCV002706328] Chr16:88733721 [GRCh38]
Chr16:88800129 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6356G>A (p.Arg2119Gln) single nucleotide variant not provided [RCV002952960] Chr16:88719689 [GRCh38]
Chr16:88786097 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5806C>A (p.Gln1936Lys) single nucleotide variant Inborn genetic diseases [RCV002978124] Chr16:88720528 [GRCh38]
Chr16:88786936 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1373G>C (p.Ser458Thr) single nucleotide variant Inborn genetic diseases [RCV002739524] Chr16:88736332 [GRCh38]
Chr16:88802740 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3400C>A (p.Arg1134Ser) single nucleotide variant Inborn genetic diseases [RCV002692435] Chr16:88727094 [GRCh38]
Chr16:88793502 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1178C>T (p.Ser393Phe) single nucleotide variant Inborn genetic diseases [RCV002693268]|not provided [RCV003151925] Chr16:88737576 [GRCh38]
Chr16:88803984 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7363G>T (p.Val2455Leu) single nucleotide variant Inborn genetic diseases [RCV002737464] Chr16:88715808 [GRCh38]
Chr16:88782216 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7067T>A (p.Phe2356Tyr) single nucleotide variant Inborn genetic diseases [RCV002844148] Chr16:88716260 [GRCh38]
Chr16:88782668 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4181G>C (p.Gly1394Ala) single nucleotide variant Inborn genetic diseases [RCV002844172] Chr16:88725062 [GRCh38]
Chr16:88791470 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1671G>A (p.Glu557=) single nucleotide variant not provided [RCV002619174] Chr16:88735052 [GRCh38]
Chr16:88801460 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1297-7C>G single nucleotide variant not provided [RCV002619175] Chr16:88736415 [GRCh38]
Chr16:88802823 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1466G>A (p.Arg489His) single nucleotide variant not provided [RCV003078865] Chr16:88736239 [GRCh38]
Chr16:88802647 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.4364C>T (p.Ala1455Val) single nucleotide variant Inborn genetic diseases [RCV002978190]|not provided [RCV003130882] Chr16:88723300 [GRCh38]
Chr16:88789708 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5162C>T (p.Ser1721Leu) single nucleotide variant not provided [RCV002509939] Chr16:88721860 [GRCh38]
Chr16:88788268 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6689C>T (p.Pro2230Leu) single nucleotide variant Inborn genetic diseases [RCV002783848] Chr16:88716870 [GRCh38]
Chr16:88783278 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4776T>C (p.Ser1592=) single nucleotide variant Inborn genetic diseases [RCV003348931]|not provided [RCV002913593] Chr16:88722397 [GRCh38]
Chr16:88788805 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5200A>G (p.Ile1734Val) single nucleotide variant Inborn genetic diseases [RCV002868634] Chr16:88721822 [GRCh38]
Chr16:88788230 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4180G>A (p.Gly1394Ser) single nucleotide variant Inborn genetic diseases [RCV002978022]|PIEZO1-related condition [RCV003420489]|not provided [RCV003738336] Chr16:88725063 [GRCh38]
Chr16:88791471 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2895C>T (p.Ala965=) single nucleotide variant PIEZO1-related condition [RCV003892207]|not provided [RCV002976565] Chr16:88732431 [GRCh38]
Chr16:88798839 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4776-15G>A single nucleotide variant not provided [RCV002593635] Chr16:88722412 [GRCh38]
Chr16:88788820 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly) single nucleotide variant not provided [RCV003083994] Chr16:88721198 [GRCh38]
Chr16:88787606 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2390A>G (p.Asp797Gly) single nucleotide variant Inborn genetic diseases [RCV002713592] Chr16:88733685 [GRCh38]
Chr16:88800093 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2132T>A (p.Met711Lys) single nucleotide variant Inborn genetic diseases [RCV002933896]|PIEZO1-related condition [RCV003409971]|not provided [RCV002957254] Chr16:88734404 [GRCh38]
Chr16:88800812 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.1132A>G (p.Thr378Ala) single nucleotide variant Inborn genetic diseases [RCV002699503]|not provided [RCV003491308] Chr16:88737622 [GRCh38]
Chr16:88804030 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6250G>A (p.Gly2084Ser) single nucleotide variant Inborn genetic diseases [RCV002892963]|PIEZO1-related condition [RCV003410186]|not provided [RCV003111708] Chr16:88719875 [GRCh38]
Chr16:88786283 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1186C>T (p.Arg396Trp) single nucleotide variant Inborn genetic diseases [RCV002853550]|not provided [RCV003329468] Chr16:88737568 [GRCh38]
Chr16:88803976 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2791-5C>T single nucleotide variant not provided [RCV003085333] Chr16:88732540 [GRCh38]
Chr16:88798948 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4067G>A (p.Arg1356His) single nucleotide variant Inborn genetic diseases [RCV002986819] Chr16:88725511 [GRCh38]
Chr16:88791919 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4609G>A (p.Gly1537Ser) single nucleotide variant Inborn genetic diseases [RCV002955078] Chr16:88722896 [GRCh38]
Chr16:88789304 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1376G>A (p.Arg459His) single nucleotide variant Inborn genetic diseases [RCV002893334] Chr16:88736329 [GRCh38]
Chr16:88802737 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5780T>A (p.Leu1927Gln) single nucleotide variant Inborn genetic diseases [RCV002987397] Chr16:88720637 [GRCh38]
Chr16:88787045 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5134G>A (p.Val1712Met) single nucleotide variant not provided [RCV003058511] Chr16:88721888 [GRCh38]
Chr16:88788296 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3302-12T>G single nucleotide variant not provided [RCV002741166] Chr16:88727204 [GRCh38]
Chr16:88793612 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.439C>T (p.Arg147Trp) single nucleotide variant Inborn genetic diseases [RCV002641765] Chr16:88741504 [GRCh38]
Chr16:88807912 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4304A>C (p.Asp1435Ala) single nucleotide variant Inborn genetic diseases [RCV002929868] Chr16:88723902 [GRCh38]
Chr16:88790310 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7231T>A (p.Cys2411Ser) single nucleotide variant Inborn genetic diseases [RCV002873135] Chr16:88716018 [GRCh38]
Chr16:88782426 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.579C>A (p.His193Gln) single nucleotide variant Inborn genetic diseases [RCV002802825] Chr16:88738623 [GRCh38]
Chr16:88805031 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3358C>T (p.Arg1120Cys) single nucleotide variant Inborn genetic diseases [RCV002929309] Chr16:88727136 [GRCh38]
Chr16:88793544 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4567G>C (p.Asp1523His) single nucleotide variant Inborn genetic diseases [RCV002789200] Chr16:88722938 [GRCh38]
Chr16:88789346 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2307C>G (p.His769Gln) single nucleotide variant not provided [RCV003082719] Chr16:88733928 [GRCh38]
Chr16:88800336 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5747C>G (p.Ser1916Cys) single nucleotide variant Inborn genetic diseases [RCV002641098] Chr16:88720670 [GRCh38]
Chr16:88787078 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6818G>A (p.Ser2273Asn) single nucleotide variant Inborn genetic diseases [RCV002875204] Chr16:88716667 [GRCh38]
Chr16:88783075 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5482G>A (p.Glu1828Lys) single nucleotide variant Inborn genetic diseases [RCV002850272]|not provided [RCV003491281] Chr16:88721352 [GRCh38]
Chr16:88787760 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln) single nucleotide variant Inborn genetic diseases [RCV002942237]|not provided [RCV002915072] Chr16:88737567 [GRCh38]
Chr16:88803975 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.6827C>T (p.Ala2276Val) single nucleotide variant Inborn genetic diseases [RCV002697357]|not provided [RCV003546871] Chr16:88716658 [GRCh38]
Chr16:88783066 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.7292G>T (p.Ser2431Ile) single nucleotide variant not provided [RCV002508413] Chr16:88715957 [GRCh38]
Chr16:88782365 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys) single nucleotide variant Inborn genetic diseases [RCV002699622]|PIEZO1-related condition [RCV003918997]|not provided [RCV003111764]|not specified [RCV003493984] Chr16:88722065 [GRCh38]
Chr16:88788473 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5639G>T (p.Gly1880Val) single nucleotide variant Inborn genetic diseases [RCV002873926] Chr16:88721195 [GRCh38]
Chr16:88787603 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5561C>A (p.Thr1854Asn) single nucleotide variant Inborn genetic diseases [RCV002826936] Chr16:88721273 [GRCh38]
Chr16:88787681 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1745A>G (p.Tyr582Cys) single nucleotide variant Inborn genetic diseases [RCV002712677] Chr16:88734978 [GRCh38]
Chr16:88801386 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5997G>T (p.Gln1999His) single nucleotide variant Inborn genetic diseases [RCV002916569] Chr16:88720236 [GRCh38]
Chr16:88786644 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4210C>T (p.Arg1404Trp) single nucleotide variant Inborn genetic diseases [RCV002917790]|PIEZO1-related condition [RCV003936355]|not provided [RCV002917789] Chr16:88725033 [GRCh38]
Chr16:88791441 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.4451G>A (p.Ser1484Asn) single nucleotide variant Inborn genetic diseases [RCV002803461] Chr16:88723139 [GRCh38]
Chr16:88789547 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2128G>C (p.Asp710His) single nucleotide variant Inborn genetic diseases [RCV002664756]|not provided [RCV003134692] Chr16:88734408 [GRCh38]
Chr16:88800816 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.923T>C (p.Leu308Pro) single nucleotide variant Inborn genetic diseases [RCV002873582] Chr16:88738031 [GRCh38]
Chr16:88804439 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.629T>A (p.Leu210Gln) single nucleotide variant not provided [RCV002667077] Chr16:88738573 [GRCh38]
Chr16:88804981 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2699A>C (p.Glu900Ala) single nucleotide variant not provided [RCV002508434] Chr16:88732698 [GRCh38]
Chr16:88799106 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7317-5del deletion not provided [RCV002508728] Chr16:88715859 [GRCh38]
Chr16:88782267 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4822G>A (p.Gly1608Ser) single nucleotide variant Inborn genetic diseases [RCV002930850] Chr16:88722351 [GRCh38]
Chr16:88788759 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4496-3_4499dup duplication not provided [RCV002711552] Chr16:88723005..88723006 [GRCh38]
Chr16:88789413..88789414 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5029C>T (p.Arg1677Trp) single nucleotide variant Inborn genetic diseases [RCV003003818]|not provided [RCV003410227] Chr16:88721993 [GRCh38]
Chr16:88788401 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.176T>C (p.Leu59Pro) single nucleotide variant Inborn genetic diseases [RCV002954789] Chr16:88742407 [GRCh38]
Chr16:88808815 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln) single nucleotide variant Blood group, ER [RCV003152653]|Inborn genetic diseases [RCV002956136]|not provided [RCV003312085] Chr16:88716030 [GRCh38]
Chr16:88782438 [GRCh37]
Chr16:16q24.3		 affects|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5810G>A (p.Gly1937Asp) single nucleotide variant Inborn genetic diseases [RCV002788361]|not provided [RCV003491275] Chr16:88720524 [GRCh38]
Chr16:88786932 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2280C>T (p.Asp760=) single nucleotide variant not provided [RCV003082665] Chr16:88733955 [GRCh38]
Chr16:88800363 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.289C>G (p.Arg97Gly) single nucleotide variant Inborn genetic diseases [RCV002929754] Chr16:88742090 [GRCh38]
Chr16:88808498 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1052G>C (p.Arg351Pro) single nucleotide variant not provided [RCV002626682] Chr16:88737783 [GRCh38]
Chr16:88804191 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His) single nucleotide variant Inborn genetic diseases [RCV002624110]|not provided [RCV002624109] Chr16:88720673 [GRCh38]
Chr16:88787081 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7145A>G (p.Tyr2382Cys) single nucleotide variant Inborn genetic diseases [RCV004065926]|not provided [RCV002626549] Chr16:88716104 [GRCh38]
Chr16:88782512 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4150G>A (p.Gly1384Ser) single nucleotide variant Inborn genetic diseases [RCV002789061] Chr16:88725428 [GRCh38]
Chr16:88791836 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1981G>A (p.Gly661Ser) single nucleotide variant Inborn genetic diseases [RCV002874203] Chr16:88734666 [GRCh38]
Chr16:88801074 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3395C>T (p.Thr1132Ile) single nucleotide variant Inborn genetic diseases [RCV002873249] Chr16:88727099 [GRCh38]
Chr16:88793507 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4879G>A (p.Asp1627Asn) single nucleotide variant Inborn genetic diseases [RCV002644605]|not provided [RCV003134688] Chr16:88722294 [GRCh38]
Chr16:88788702 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5657C>T (p.Ala1886Val) single nucleotide variant Inborn genetic diseases [RCV002916942] Chr16:88721177 [GRCh38]
Chr16:88787585 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4211G>A (p.Arg1404Gln) single nucleotide variant Inborn genetic diseases [RCV002802963] Chr16:88725032 [GRCh38]
Chr16:88791440 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.161G>T (p.Gly54Val) single nucleotide variant Inborn genetic diseases [RCV002742965] Chr16:88742422 [GRCh38]
Chr16:88808830 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5047G>C (p.Val1683Leu) single nucleotide variant Inborn genetic diseases [RCV002793247] Chr16:88721975 [GRCh38]
Chr16:88788383 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6990C>T (p.Pro2330=) single nucleotide variant not provided [RCV002900077] Chr16:88716420 [GRCh38]
Chr16:88782828 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4420G>A (p.Ala1474Thr) single nucleotide variant Inborn genetic diseases [RCV002719656]|not provided [RCV003491309] Chr16:88723244 [GRCh38]
Chr16:88789652 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2140G>A (p.Val714Met) single nucleotide variant Inborn genetic diseases [RCV002921217] Chr16:88734396 [GRCh38]
Chr16:88800804 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3312C>T (p.Leu1104=) single nucleotide variant PIEZO1-related condition [RCV003961316]|not provided [RCV002967274] Chr16:88727182 [GRCh38]
Chr16:88793590 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.2181-14G>A single nucleotide variant not provided [RCV002576795] Chr16:88734068 [GRCh38]
Chr16:88800476 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.2035G>A (p.Glu679Lys) single nucleotide variant Inborn genetic diseases [RCV002718399] Chr16:88734501 [GRCh38]
Chr16:88800909 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7369G>A (p.Gly2457Arg) single nucleotide variant not provided [RCV002633075] Chr16:88715802 [GRCh38]
Chr16:88782210 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1842C>G (p.Leu614=) single nucleotide variant not provided [RCV002579303] Chr16:88734881 [GRCh38]
Chr16:88801289 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2551C>T (p.Arg851Trp) single nucleotide variant Inborn genetic diseases [RCV002652292] Chr16:88733391 [GRCh38]
Chr16:88799799 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7555G>A (p.Glu2519Lys) single nucleotide variant Inborn genetic diseases [RCV002746906] Chr16:88715616 [GRCh38]
Chr16:88782024 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.715C>A (p.Pro239Thr) single nucleotide variant Inborn genetic diseases [RCV004065715]|not provided [RCV002630185] Chr16:88738360 [GRCh38]
Chr16:88804768 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.7129+12C>T single nucleotide variant not provided [RCV002597995] Chr16:88716186 [GRCh38]
Chr16:88782594 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6829C>G (p.Leu2277Val) single nucleotide variant Inborn genetic diseases [RCV002747110] Chr16:88716656 [GRCh38]
Chr16:88783064 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5196G>A (p.Thr1732=) single nucleotide variant not provided [RCV002599525] Chr16:88721826 [GRCh38]
Chr16:88788234 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3858C>G (p.Ile1286Met) single nucleotide variant Inborn genetic diseases [RCV002921766] Chr16:88726394 [GRCh38]
Chr16:88792802 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3223G>T (p.Val1075Phe) single nucleotide variant Inborn genetic diseases [RCV002832554] Chr16:88727635 [GRCh38]
Chr16:88794043 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2152G>C (p.Gly718Arg) single nucleotide variant not provided [RCV002671305] Chr16:88734384 [GRCh38]
Chr16:88800792 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2404G>C (p.Val802Leu) single nucleotide variant Inborn genetic diseases [RCV002898233] Chr16:88733671 [GRCh38]
Chr16:88800079 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys) single nucleotide variant not provided [RCV003061622] Chr16:88721552 [GRCh38]
Chr16:88787960 [GRCh37]
Chr16:16q24.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.5285G>A (p.Arg1762His) single nucleotide variant Inborn genetic diseases [RCV002961126] Chr16:88721656 [GRCh38]
Chr16:88788064 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2385C>T (p.Phe795=) single nucleotide variant not provided [RCV002579302] Chr16:88733690 [GRCh38]
Chr16:88800098 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5700G>C (p.Glu1900Asp) single nucleotide variant Inborn genetic diseases [RCV002855242] Chr16:88720717 [GRCh38]
Chr16:88787125 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1528C>T (p.Arg510Cys) single nucleotide variant Inborn genetic diseases [RCV002964307]|not provided [RCV003135260] Chr16:88736177 [GRCh38]
Chr16:88802585 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4675G>A (p.Glu1559Lys) single nucleotide variant Inborn genetic diseases [RCV002792691] Chr16:88722683 [GRCh38]
Chr16:88789091 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1329C>T (p.Thr443=) single nucleotide variant not provided [RCV002579792] Chr16:88736376 [GRCh38]
Chr16:88802784 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6323+18G>A single nucleotide variant not provided [RCV002581221] Chr16:88719784 [GRCh38]
Chr16:88786192 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys) single nucleotide variant not provided [RCV003064365] Chr16:88720471 [GRCh38]
Chr16:88786879 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.4529C>T (p.Thr1510Met) single nucleotide variant Inborn genetic diseases [RCV002703099]|not provided [RCV003565577] Chr16:88722976 [GRCh38]
Chr16:88789384 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.5679C>T (p.Asp1893=) single nucleotide variant not provided [RCV002716322] Chr16:88720738 [GRCh38]
Chr16:88787146 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3969-13C>T single nucleotide variant not provided [RCV002600964] Chr16:88725697 [GRCh38]
Chr16:88792105 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4199G>A (p.Arg1400Lys) single nucleotide variant Inborn genetic diseases [RCV002835613] Chr16:88725044 [GRCh38]
Chr16:88791452 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.977C>T (p.Thr326Met) single nucleotide variant Inborn genetic diseases [RCV002965213]|not provided [RCV003730332] Chr16:88737977 [GRCh38]
Chr16:88804385 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.3325G>A (p.Ala1109Thr) single nucleotide variant Inborn genetic diseases [RCV002793035]|not provided [RCV003777772] Chr16:88727169 [GRCh38]
Chr16:88793577 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.4799T>C (p.Leu1600Pro) single nucleotide variant Inborn genetic diseases [RCV002717990] Chr16:88722374 [GRCh38]
Chr16:88788782 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4103G>A (p.Arg1368Gln) single nucleotide variant Inborn genetic diseases [RCV004064424]|not provided [RCV002577101] Chr16:88725475 [GRCh38]
Chr16:88791883 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.769G>A (p.Ala257Thr) single nucleotide variant not provided [RCV002599313] Chr16:88738306 [GRCh38]
Chr16:88804714 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.5867C>T (p.Ala1956Val) single nucleotide variant Inborn genetic diseases [RCV002896039] Chr16:88720467 [GRCh38]
Chr16:88786875 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1111G>A (p.Val371Met) single nucleotide variant Inborn genetic diseases [RCV002965536] Chr16:88737643 [GRCh38]
Chr16:88804051 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4019G>A (p.Arg1340His) single nucleotide variant Inborn genetic diseases [RCV002714447]|not provided [RCV003130888] Chr16:88725634 [GRCh38]
Chr16:88792042 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1763T>C (p.Phe588Ser) single nucleotide variant not provided [RCV003009378] Chr16:88734960 [GRCh38]
Chr16:88801368 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.6597C>T (p.Ser2199=) single nucleotide variant not provided [RCV002580399] Chr16:88717086 [GRCh38]
Chr16:88783494 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6079G>T (p.Val2027Leu) single nucleotide variant Inborn genetic diseases [RCV002855682] Chr16:88720154 [GRCh38]
Chr16:88786562 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1009C>T (p.Pro337Ser) single nucleotide variant not provided [RCV002900389] Chr16:88737945 [GRCh38]
Chr16:88804353 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3867C>T (p.Ser1289=) single nucleotide variant not provided [RCV002943134] Chr16:88726385 [GRCh38]
Chr16:88792793 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5025G>A (p.Leu1675=) single nucleotide variant not provided [RCV002634822] Chr16:88721997 [GRCh38]
Chr16:88788405 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3875T>G (p.Phe1292Cys) single nucleotide variant Inborn genetic diseases [RCV004071875]|not provided [RCV003093596] Chr16:88726377 [GRCh38]
Chr16:88792785 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.2901T>A (p.Phe967Leu) single nucleotide variant Inborn genetic diseases [RCV002944352] Chr16:88732425 [GRCh38]
Chr16:88798833 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1297-7C>T single nucleotide variant not provided [RCV003070328] Chr16:88736415 [GRCh38]
Chr16:88802823 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6927-19G>A single nucleotide variant not provided [RCV002609816] Chr16:88716502 [GRCh38]
Chr16:88782910 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1089G>A (p.Gln363=) single nucleotide variant not provided [RCV002608576] Chr16:88737746 [GRCh38]
Chr16:88804154 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.463C>T (p.Leu155=) single nucleotide variant not provided [RCV002584510] Chr16:88741480 [GRCh38]
Chr16:88807888 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.538C>G (p.Arg180Gly) single nucleotide variant not provided [RCV002608728] Chr16:88738664 [GRCh38]
Chr16:88805072 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4776-21_4776-20del microsatellite not provided [RCV002589782] Chr16:88722417..88722418 [GRCh38]
Chr16:88788825..88788826 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3432C>G (p.Pro1144=) single nucleotide variant not provided [RCV003092298] Chr16:88727062 [GRCh38]
Chr16:88793470 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.328C>G (p.Leu110Val) single nucleotide variant Inborn genetic diseases [RCV002724255]|not provided [RCV003135229] Chr16:88741615 [GRCh38]
Chr16:88808023 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3728T>C (p.Met1243Thr) single nucleotide variant Inborn genetic diseases [RCV002657286] Chr16:88726615 [GRCh38]
Chr16:88793023 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2923C>G (p.Leu975Val) single nucleotide variant not provided [RCV002607409] Chr16:88732403 [GRCh38]
Chr16:88798811 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1006C>T (p.Arg336Cys) single nucleotide variant Inborn genetic diseases [RCV002611169]|not provided [RCV002611170] Chr16:88737948 [GRCh38]
Chr16:88804356 [GRCh37]
Chr16:16q24.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5877C>T (p.Asp1959=) single nucleotide variant not provided [RCV003070060] Chr16:88720457 [GRCh38]
Chr16:88786865 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6340T>C (p.Phe2114Leu) single nucleotide variant Inborn genetic diseases [RCV002723512] Chr16:88719705 [GRCh38]
Chr16:88786113 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2315C>T (p.Thr772Met) single nucleotide variant not provided [RCV003131914] Chr16:88733920 [GRCh38]
Chr16:88800328 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5403G>A (p.Leu1801=) single nucleotide variant not provided [RCV003131917] Chr16:88721538 [GRCh38]
Chr16:88787946 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2941G>A (p.Gly981Ser) single nucleotide variant not provided [RCV003131926] Chr16:88732385 [GRCh38]
Chr16:88798793 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5765C>T (p.Ala1922Val) single nucleotide variant not provided [RCV003131931] Chr16:88720652 [GRCh38]
Chr16:88787060 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4815C>G (p.Asp1605Glu) single nucleotide variant not provided [RCV003131934] Chr16:88722358 [GRCh38]
Chr16:88788766 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5419G>A (p.Asp1807Asn) single nucleotide variant not provided [RCV003131939] Chr16:88721415 [GRCh38]
Chr16:88787823 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4619G>A (p.Ser1540Asn) single nucleotide variant not provided [RCV003131944] Chr16:88722886 [GRCh38]
Chr16:88789294 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5011C>T (p.Arg1671Trp) single nucleotide variant Inborn genetic diseases [RCV003164831]|not provided [RCV003131946] Chr16:88722011 [GRCh38]
Chr16:88788419 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3676A>G (p.Ile1226Val) single nucleotide variant not provided [RCV003131916] Chr16:88726738 [GRCh38]
Chr16:88793146 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.245A>G (p.His82Arg) single nucleotide variant not provided [RCV003131933] Chr16:88742338 [GRCh38]
Chr16:88808746 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1670-4del deletion not provided [RCV003131920] Chr16:88735057 [GRCh38]
Chr16:88801465 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe) single nucleotide variant not provided [RCV003131927] Chr16:88721548 [GRCh38]
Chr16:88787956 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5482G>C (p.Glu1828Gln) single nucleotide variant not provided [RCV003131929] Chr16:88721352 [GRCh38]
Chr16:88787760 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5423A>G (p.His1808Arg) single nucleotide variant not provided [RCV003131940] Chr16:88721411 [GRCh38]
Chr16:88787819 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4838C>T (p.Thr1613Ile) single nucleotide variant not provided [RCV003131928] Chr16:88722335 [GRCh38]
Chr16:88788743 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.601C>T (p.Arg201Trp) single nucleotide variant not provided [RCV003131930] Chr16:88738601 [GRCh38]
Chr16:88805009 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4058A>T (p.Gln1353Leu) single nucleotide variant not provided [RCV003131932] Chr16:88725595 [GRCh38]
Chr16:88792003 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4102C>T (p.Arg1368Trp) single nucleotide variant Inborn genetic diseases [RCV003341542]|not provided [RCV003131935] Chr16:88725476 [GRCh38]
Chr16:88791884 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6151G>A (p.Ala2051Thr) single nucleotide variant not provided [RCV003131937] Chr16:88720082 [GRCh38]
Chr16:88786490 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5021G>A (p.Arg1674Gln) single nucleotide variant not provided [RCV003131941] Chr16:88722001 [GRCh38]
Chr16:88788409 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4503C>A (p.Ser1501Arg) single nucleotide variant not provided [RCV003131942] Chr16:88723002 [GRCh38]
Chr16:88789410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3293A>G (p.Asn1098Ser) single nucleotide variant not provided [RCV003131943] Chr16:88727565 [GRCh38]
Chr16:88793973 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4631G>A (p.Arg1544Gln) single nucleotide variant not provided [RCV003131945] Chr16:88722874 [GRCh38]
Chr16:88789282 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6038G>C (p.Ser2013Thr) single nucleotide variant not provided [RCV003131947] Chr16:88720195 [GRCh38]
Chr16:88786603 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.77G>A (p.Arg26His) single nucleotide variant not provided [RCV003131948] Chr16:88749467 [GRCh38]
Chr16:88815875 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6973A>C (p.Met2325Leu) single nucleotide variant not provided [RCV003131949] Chr16:88716437 [GRCh38]
Chr16:88782845 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3832C>A (p.Leu1278Met) single nucleotide variant not provided [RCV003131913] Chr16:88726420 [GRCh38]
Chr16:88792828 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1821C>T (p.Leu607=) single nucleotide variant not provided [RCV003131915] Chr16:88734902 [GRCh38]
Chr16:88801310 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7398T>C (p.Ile2466=) single nucleotide variant not provided [RCV003131921] Chr16:88715773 [GRCh38]
Chr16:88782181 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3775A>T (p.Thr1259Ser) single nucleotide variant not provided [RCV003131922] Chr16:88726568 [GRCh38]
Chr16:88792976 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.757G>A (p.Gly253Arg) single nucleotide variant not provided [RCV003131925] Chr16:88738318 [GRCh38]
Chr16:88804726 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7141G>A (p.Asp2381Asn) single nucleotide variant Inborn genetic diseases [RCV003254926] Chr16:88716108 [GRCh38]
Chr16:88782516 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6055C>T (p.Arg2019Cys) single nucleotide variant PIEZO1-related condition [RCV003393126] Chr16:88720178 [GRCh38]
Chr16:88786586 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4361A>G (p.Asn1454Ser) single nucleotide variant Inborn genetic diseases [RCV003299801] Chr16:88723303 [GRCh38]
Chr16:88789711 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6823G>A (p.Gly2275Arg) single nucleotide variant Inborn genetic diseases [RCV003201869] Chr16:88716662 [GRCh38]
Chr16:88783070 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2399C>T (p.Ser800Leu) single nucleotide variant Inborn genetic diseases [RCV003195504] Chr16:88733676 [GRCh38]
Chr16:88800084 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.572C>T (p.Thr191Met) single nucleotide variant Inborn genetic diseases [RCV003197528]|not provided [RCV003491345] Chr16:88738630 [GRCh38]
Chr16:88805038 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3400C>G (p.Arg1134Gly) single nucleotide variant Inborn genetic diseases [RCV003205914] Chr16:88727094 [GRCh38]
Chr16:88793502 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2973C>G (p.Phe991Leu) single nucleotide variant Inborn genetic diseases [RCV003205047] Chr16:88732353 [GRCh38]
Chr16:88798761 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4727C>T (p.Thr1576Met) single nucleotide variant Inborn genetic diseases [RCV003204746] Chr16:88722631 [GRCh38]
Chr16:88789039 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.355A>C (p.Ile119Leu) single nucleotide variant Inborn genetic diseases [RCV003220293] Chr16:88741588 [GRCh38]
Chr16:88807996 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5513C>A (p.Thr1838Asn) single nucleotide variant Inborn genetic diseases [RCV003212523] Chr16:88721321 [GRCh38]
Chr16:88787729 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6634G>A (p.Val2212Ile) single nucleotide variant Inborn genetic diseases [RCV003191168]|not provided [RCV003481466] Chr16:88717049 [GRCh38]
Chr16:88783457 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4340C>T (p.Ala1447Val) single nucleotide variant Inborn genetic diseases [RCV003191131]|not provided [RCV003992752] Chr16:88723324 [GRCh38]
Chr16:88789732 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1787G>A (p.Arg596His) single nucleotide variant Inborn genetic diseases [RCV003203278] Chr16:88734936 [GRCh38]
Chr16:88801344 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5820G>A (p.Arg1940=) single nucleotide variant not provided [RCV003222885] Chr16:88720514 [GRCh38]
Chr16:88786922 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3641T>C (p.Leu1214Pro) single nucleotide variant Inborn genetic diseases [RCV003206102] Chr16:88726773 [GRCh38]
Chr16:88793181 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7283G>C (p.Ser2428Thr) single nucleotide variant not provided [RCV003134835] Chr16:88715966 [GRCh38]
Chr16:88782374 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6279C>A (p.Phe2093Leu) single nucleotide variant not provided [RCV003134836] Chr16:88719846 [GRCh38]
Chr16:88786254 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1721G>A (p.Gly574Asp) single nucleotide variant not provided [RCV003134838] Chr16:88735002 [GRCh38]
Chr16:88801410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5111C>A (p.Ser1704Tyr) single nucleotide variant not provided [RCV003134839] Chr16:88721911 [GRCh38]
Chr16:88788319 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4820T>C (p.Met1607Thr) single nucleotide variant not provided [RCV003134840] Chr16:88722353 [GRCh38]
Chr16:88788761 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.415T>G (p.Cys139Gly) single nucleotide variant not provided [RCV003134841] Chr16:88741528 [GRCh38]
Chr16:88807936 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2392G>A (p.Val798Ile) single nucleotide variant Inborn genetic diseases [RCV004246039]|PIEZO1-related condition [RCV003420570]|not provided [RCV003134842] Chr16:88733683 [GRCh38]
Chr16:88800091 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3796C>A (p.Pro1266Thr) single nucleotide variant not provided [RCV003134843] Chr16:88726547 [GRCh38]
Chr16:88792955 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val) single nucleotide variant not provided [RCV003134844] Chr16:88720414 [GRCh38]
Chr16:88786822 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7481A>G (p.Glu2494Gly) single nucleotide variant PIEZO1-related condition [RCV003410270]|not provided [RCV003134845] Chr16:88715690 [GRCh38]
Chr16:88782098 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4894G>A (p.Glu1632Lys) single nucleotide variant Inborn genetic diseases [RCV004246040]|not provided [RCV003134847] Chr16:88722279 [GRCh38]
Chr16:88788687 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3487T>G (p.Phe1163Val) single nucleotide variant not provided [RCV003134848] Chr16:88726927 [GRCh38]
Chr16:88793335 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3218G>A (p.Arg1073Gln) single nucleotide variant not provided [RCV003134849] Chr16:88727640 [GRCh38]
Chr16:88794048 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6506A>T (p.Lys2169Met) single nucleotide variant not provided [RCV003134850] Chr16:88717177 [GRCh38]
Chr16:88783585 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2813T>C (p.Leu938Pro) single nucleotide variant not provided [RCV003134851] Chr16:88732513 [GRCh38]
Chr16:88798921 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5695G>T (p.Gly1899Trp) single nucleotide variant not provided [RCV003134852] Chr16:88720722 [GRCh38]
Chr16:88787130 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3962C>T (p.Ala1321Val) single nucleotide variant not provided [RCV003134877] Chr16:88726290 [GRCh38]
Chr16:88792698 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3976G>A (p.Ala1326Thr) single nucleotide variant not provided [RCV003134876] Chr16:88725677 [GRCh38]
Chr16:88792085 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3818A>G (p.Asp1273Gly) single nucleotide variant not provided [RCV003134879] Chr16:88726434 [GRCh38]
Chr16:88792842 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.2251G>C (p.Glu751Gln) single nucleotide variant not provided [RCV003134880] Chr16:88733984 [GRCh38]
Chr16:88800392 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2593A>G (p.Ile865Val) single nucleotide variant not provided [RCV003134881] Chr16:88733349 [GRCh38]
Chr16:88799757 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.226G>A (p.Ala76Thr) single nucleotide variant not provided [RCV003134882] Chr16:88742357 [GRCh38]
Chr16:88808765 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4849A>C (p.Thr1617Pro) single nucleotide variant not provided [RCV003134883] Chr16:88722324 [GRCh38]
Chr16:88788732 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5979C>G (p.Ser1993=) single nucleotide variant not provided [RCV003134884] Chr16:88720254 [GRCh38]
Chr16:88786662 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4952A>C (p.Asp1651Ala) single nucleotide variant not provided [RCV003134885] Chr16:88722221 [GRCh38]
Chr16:88788629 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5638G>T (p.Gly1880Cys) single nucleotide variant not provided [RCV003134887] Chr16:88721196 [GRCh38]
Chr16:88787604 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5116G>A (p.Gly1706Ser) single nucleotide variant Lymphatic malformation 6 [RCV003458254]|not provided [RCV003134888] Chr16:88721906 [GRCh38]
Chr16:88788314 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.868T>C (p.Phe290Leu) single nucleotide variant not provided [RCV003134890] Chr16:88738086 [GRCh38]
Chr16:88804494 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.421C>T (p.Arg141Cys) single nucleotide variant not provided [RCV003134891] Chr16:88741522 [GRCh38]
Chr16:88807930 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6107C>T (p.Ala2036Val) single nucleotide variant Inborn genetic diseases [RCV004246041]|not provided [RCV003134892] Chr16:88720126 [GRCh38]
Chr16:88786534 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.5878G>A (p.Val1960Ile) single nucleotide variant not provided [RCV003134893] Chr16:88720456 [GRCh38]
Chr16:88786864 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7081C>T (p.Arg2361Cys) single nucleotide variant Inborn genetic diseases [RCV003250850]|not provided [RCV003134894] Chr16:88716246 [GRCh38]
Chr16:88782654 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5062_5063delinsCT (p.Glu1688Leu) indel not provided [RCV003134895] Chr16:88721959..88721960 [GRCh38]
Chr16:88788367..88788368 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6785C>T (p.Pro2262Leu) single nucleotide variant not provided [RCV003134896] Chr16:88716700 [GRCh38]
Chr16:88783108 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7420G>A (p.Val2474Met) single nucleotide variant not provided [RCV003134897] Chr16:88715751 [GRCh38]
Chr16:88782159 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.5669-3C>T single nucleotide variant not provided [RCV003134898] Chr16:88720751 [GRCh38]
Chr16:88787159 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.742C>T (p.Leu248Phe) single nucleotide variant not provided [RCV003134899] Chr16:88738333 [GRCh38]
Chr16:88804741 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.440G>A (p.Arg147Gln) single nucleotide variant not provided [RCV003134900] Chr16:88741503 [GRCh38]
Chr16:88807911 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3082C>T (p.Arg1028Cys) single nucleotide variant not provided [RCV003134901] Chr16:88731820 [GRCh38]
Chr16:88798228 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2583G>T (p.Trp861Cys) single nucleotide variant not provided [RCV003134902] Chr16:88733359 [GRCh38]
Chr16:88799767 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2801A>G (p.Gln934Arg) single nucleotide variant not provided [RCV003134875] Chr16:88732525 [GRCh38]
Chr16:88798933 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1336C>A (p.Leu446Met) single nucleotide variant not provided [RCV003134874] Chr16:88736369 [GRCh38]
Chr16:88802777 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3031A>G (p.Met1011Val) single nucleotide variant not provided [RCV003134873] Chr16:88731871 [GRCh38]
Chr16:88798279 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1400C>T (p.Ser467Leu) single nucleotide variant not provided [RCV003134872] Chr16:88736305 [GRCh38]
Chr16:88802713 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4117C>G (p.Arg1373Gly) single nucleotide variant not provided [RCV003134870] Chr16:88725461 [GRCh38]
Chr16:88791869 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7157G>A (p.Arg2386His) single nucleotide variant PIEZO1-related condition [RCV003420571]|not provided [RCV003134869] Chr16:88716092 [GRCh38]
Chr16:88782500 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5681G>A (p.Arg1894Lys) single nucleotide variant not provided [RCV003134868] Chr16:88720736 [GRCh38]
Chr16:88787144 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.7081C>A (p.Arg2361Ser) single nucleotide variant not provided [RCV003134867] Chr16:88716246 [GRCh38]
Chr16:88782654 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His) single nucleotide variant not provided [RCV003134866] Chr16:88722865 [GRCh38]
Chr16:88789273 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.6576_6590del (p.Phe2193_Val2197del) deletion not provided [RCV003134865] Chr16:88717093..88717107 [GRCh38]
Chr16:88783501..88783515 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5840A>C (p.His1947Pro) single nucleotide variant not provided [RCV003134864] Chr16:88720494 [GRCh38]
Chr16:88786902 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.827C>T (p.Pro276Leu) single nucleotide variant Inborn genetic diseases [RCV003259382] Chr16:88738248 [GRCh38]
Chr16:88804656 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.106C>T (p.Leu36Phe) single nucleotide variant not provided [RCV003134863] Chr16:88749438 [GRCh38]
Chr16:88815846 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2697G>T (p.Thr899=) single nucleotide variant not provided [RCV003134862] Chr16:88732700 [GRCh38]
Chr16:88799108 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.844G>C (p.Ala282Pro) single nucleotide variant not provided [RCV003134861] Chr16:88738231 [GRCh38]
Chr16:88804639 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6411G>A (p.Met2137Ile) single nucleotide variant not provided [RCV003134860] Chr16:88719634 [GRCh38]
Chr16:88786042 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4066C>T (p.Arg1356Cys) single nucleotide variant not provided [RCV003134859] Chr16:88725512 [GRCh38]
Chr16:88791920 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4784G>A (p.Gly1595Asp) single nucleotide variant not provided [RCV003134858] Chr16:88722389 [GRCh38]
Chr16:88788797 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1208G>A (p.Arg403Gln) single nucleotide variant not provided [RCV003134857] Chr16:88736727 [GRCh38]
Chr16:88803135 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3022G>C (p.Gly1008Arg) single nucleotide variant not provided [RCV003134856] Chr16:88731880 [GRCh38]
Chr16:88798288 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3988G>A (p.Ala1330Thr) single nucleotide variant not provided [RCV003134855] Chr16:88725665 [GRCh38]
Chr16:88792073 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2641_2643del (p.Glu881del) deletion not provided [RCV003134854] Chr16:88733299..88733301 [GRCh38]
Chr16:88799707..88799709 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6214A>C (p.Ile2072Leu) single nucleotide variant not provided [RCV003134853] Chr16:88719911 [GRCh38]
Chr16:88786319 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6868C>T (p.Arg2290Trp) single nucleotide variant not provided [RCV003134878] Chr16:88716617 [GRCh38]
Chr16:88783025 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003155903]|not provided [RCV003561201] Chr16:88734371 [GRCh38]
Chr16:88800779 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.1297-2A>G single nucleotide variant not provided [RCV003135665] Chr16:88736410 [GRCh38]
Chr16:88802818 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.5718dup (p.Thr1907fs) duplication not provided [RCV003135666] Chr16:88720698..88720699 [GRCh38]
Chr16:88787106..88787107 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.5395C>T (p.Gln1799Ter) single nucleotide variant not provided [RCV003135667] Chr16:88721546 [GRCh38]
Chr16:88787954 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.1352G>A (p.Cys451Tyr) single nucleotide variant Inborn genetic diseases [RCV003197284] Chr16:88736353 [GRCh38]
Chr16:88802761 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3913C>T (p.His1305Tyr) single nucleotide variant not provided [RCV003142666] Chr16:88726339 [GRCh38]
Chr16:88792747 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3001C>G (p.Leu1001Val) single nucleotide variant not provided [RCV003142667] Chr16:88731901 [GRCh38]
Chr16:88798309 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1531T>G (p.Tyr511Asp) single nucleotide variant not provided [RCV003142668] Chr16:88736174 [GRCh38]
Chr16:88802582 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6584C>T (p.Ser2195Leu) single nucleotide variant not provided [RCV003142669] Chr16:88717099 [GRCh38]
Chr16:88783507 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.468TGA[2] (p.Asp158del) microsatellite not provided [RCV003142670] Chr16:88738726..88738728 [GRCh38]
Chr16:88805134..88805136 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4195C>T (p.Arg1399Trp) single nucleotide variant not provided [RCV003142672] Chr16:88725048 [GRCh38]
Chr16:88791456 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2404G>A (p.Val802Met) single nucleotide variant Inborn genetic diseases [RCV003269549]|not provided [RCV003142673] Chr16:88733671 [GRCh38]
Chr16:88800079 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.707G>C (p.Cys236Ser) single nucleotide variant not provided [RCV003142674] Chr16:88738368 [GRCh38]
Chr16:88804776 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4118G>A (p.Arg1373His) single nucleotide variant not provided [RCV003142675] Chr16:88725460 [GRCh38]
Chr16:88791868 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5701G>A (p.Glu1901Lys) single nucleotide variant Inborn genetic diseases [RCV003197794] Chr16:88720716 [GRCh38]
Chr16:88787124 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4492G>A (p.Ala1498Thr) single nucleotide variant Inborn genetic diseases [RCV003175662] Chr16:88723098 [GRCh38]
Chr16:88789506 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3025C>T (p.Gln1009Ter) single nucleotide variant Lymphatic malformation 6 [RCV003140287] Chr16:88731877 [GRCh38]
Chr16:88798285 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.7488G>C (p.Glu2496Asp) single nucleotide variant Lymphatic malformation 6 [RCV003140283] Chr16:88715683 [GRCh38]
Chr16:88782091 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.612dup (p.Val205fs) duplication Lymphatic malformation 6 [RCV003140284] Chr16:88738589..88738590 [GRCh38]
Chr16:88804997..88804998 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.7415C>T (p.Pro2472Leu) single nucleotide variant Inborn genetic diseases [RCV003180684]|not provided [RCV003992751] Chr16:88715756 [GRCh38]
Chr16:88782164 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4672G>A (p.Gly1558Ser) single nucleotide variant Inborn genetic diseases [RCV003192700] Chr16:88722686 [GRCh38]
Chr16:88789094 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001012759.3(CTU2):c.1432C>A (p.Pro478Thr) single nucleotide variant not provided [RCV003223882] Chr16:88715060 [GRCh38]
Chr16:88781468 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3055G>A (p.Gly1019Ser) single nucleotide variant Inborn genetic diseases [RCV003196723] Chr16:88731847 [GRCh38]
Chr16:88798255 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.140C>G (p.Pro47Arg) single nucleotide variant Inborn genetic diseases [RCV003214379] Chr16:88749404 [GRCh38]
Chr16:88815812 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5590C>T (p.Arg1864Cys) single nucleotide variant not provided [RCV003225355] Chr16:88721244 [GRCh38]
Chr16:88787652 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.5438C>T (p.Pro1813Leu) single nucleotide variant Inborn genetic diseases [RCV003207969] Chr16:88721396 [GRCh38]
Chr16:88787804 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5181G>C (p.Lys1727Asn) single nucleotide variant not specified [RCV003322306] Chr16:88721841 [GRCh38]
Chr16:88788249 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4246G>A (p.Gly1416Arg) single nucleotide variant not specified [RCV003322307] Chr16:88723960 [GRCh38]
Chr16:88790368 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.870C>G (p.Phe290Leu) single nucleotide variant Inborn genetic diseases [RCV003309628] Chr16:88738084 [GRCh38]
Chr16:88804492 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1960G>C (p.Ala654Pro) single nucleotide variant not specified [RCV003320511] Chr16:88734687 [GRCh38]
Chr16:88801095 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5602C>G (p.Arg1868Gly) single nucleotide variant PIEZO1-related condition [RCV003397240] Chr16:88721232 [GRCh38]
Chr16:88787640 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4015C>T (p.His1339Tyr) single nucleotide variant Inborn genetic diseases [RCV003339982] Chr16:88725638 [GRCh38]
Chr16:88792046 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4241A>G (p.His1414Arg) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003338026] Chr16:88723965 [GRCh38]
Chr16:88790373 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4964G>A (p.Arg1655His) single nucleotide variant Inborn genetic diseases [RCV003381396] Chr16:88722058 [GRCh38]
Chr16:88788466 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2539T>C (p.Tyr847His) single nucleotide variant Inborn genetic diseases [RCV003376923] Chr16:88733403 [GRCh38]
Chr16:88799811 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5413C>G (p.Leu1805Val) single nucleotide variant PIEZO1-related condition [RCV003420829] Chr16:88721421 [GRCh38]
Chr16:88787829 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3781A>C (p.Lys1261Gln) single nucleotide variant Inborn genetic diseases [RCV003374319] Chr16:88726562 [GRCh38]
Chr16:88792970 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5816A>G (p.Tyr1939Cys) single nucleotide variant Inborn genetic diseases [RCV003370394] Chr16:88720518 [GRCh38]
Chr16:88786926 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.428C>G (p.Ala143Gly) single nucleotide variant PIEZO1-related condition [RCV003393156] Chr16:88741515 [GRCh38]
Chr16:88807923 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3886C>A (p.Leu1296Met) single nucleotide variant Inborn genetic diseases [RCV003365164] Chr16:88726366 [GRCh38]
Chr16:88792774 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3559C>G (p.Leu1187Val) single nucleotide variant Inborn genetic diseases [RCV003366546] Chr16:88726855 [GRCh38]
Chr16:88793263 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3907C>T (p.Leu1303Phe) single nucleotide variant Inborn genetic diseases [RCV003386836] Chr16:88726345 [GRCh38]
Chr16:88792753 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5353T>C (p.Tyr1785His) single nucleotide variant Inborn genetic diseases [RCV003374278] Chr16:88721588 [GRCh38]
Chr16:88787996 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2737C>T (p.Pro913Ser) single nucleotide variant Inborn genetic diseases [RCV003370492] Chr16:88732660 [GRCh38]
Chr16:88799068 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5072_5074del (p.Cys1691del) deletion Lymphatic malformation 6 [RCV003458285] Chr16:88721948..88721950 [GRCh38]
Chr16:88788356..88788358 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6482A>G (p.Gln2161Arg) single nucleotide variant Inborn genetic diseases [RCV003372137] Chr16:88717201 [GRCh38]
Chr16:88783609 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.167C>T (p.Thr56Ile) single nucleotide variant Inborn genetic diseases [RCV003352186] Chr16:88742416 [GRCh38]
Chr16:88808824 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu) single nucleotide variant not provided [RCV003563331] Chr16:88723890 [GRCh38]
Chr16:88790298 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1296+6C>T single nucleotide variant PIEZO1-related condition [RCV003919244]|not provided [RCV003456952] Chr16:88736633 [GRCh38]
Chr16:88803041 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1828C>T (p.Leu610Phe) single nucleotide variant Inborn genetic diseases [RCV004364891]|not provided [RCV003488204] Chr16:88734895 [GRCh38]
Chr16:88801303 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7333G>A (p.Val2445Met) single nucleotide variant not provided [RCV003488243] Chr16:88715838 [GRCh38]
Chr16:88782246 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.4018C>T (p.Arg1340Cys) single nucleotide variant not provided [RCV003488255] Chr16:88725635 [GRCh38]
Chr16:88792043 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6384C>T (p.Asp2128=) single nucleotide variant not provided [RCV003712572] Chr16:88719661 [GRCh38]
Chr16:88786069 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4607A>G (p.His1536Arg) single nucleotide variant Lymphatic malformation 6 [RCV003458282] Chr16:88722898 [GRCh38]
Chr16:88789306 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3397G>A (p.Asp1133Asn) single nucleotide variant Lymphatic malformation 6 [RCV003458289] Chr16:88727097 [GRCh38]
Chr16:88793505 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4956-17C>T single nucleotide variant not provided [RCV003736368] Chr16:88722083 [GRCh38]
Chr16:88788491 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val) single nucleotide variant not provided [RCV003736455] Chr16:88736724 [GRCh38]
Chr16:88803132 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1917G>C (p.Leu639=) single nucleotide variant not provided [RCV003736498] Chr16:88734730 [GRCh38]
Chr16:88801138 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6927-20C>T single nucleotide variant not provided [RCV003872573] Chr16:88716503 [GRCh38]
Chr16:88782911 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3458C>G (p.Ser1153Cys) single nucleotide variant not provided [RCV003480216] Chr16:88726956 [GRCh38]
Chr16:88793364 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2748G>A (p.Trp916Ter) single nucleotide variant not provided [RCV003480322] Chr16:88732649 [GRCh38]
Chr16:88799057 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.4382G>A (p.Arg1461Gln) single nucleotide variant not provided [RCV003480210] Chr16:88723282 [GRCh38]
Chr16:88789690 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.469G>C (p.Asp157His) single nucleotide variant PIEZO1-related condition [RCV003954291]|not provided [RCV003571146] Chr16:88738733 [GRCh38]
Chr16:88805141 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.4928G>A (p.Arg1643Gln) single nucleotide variant not provided [RCV003874979] Chr16:88722245 [GRCh38]
Chr16:88788653 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.7348_7359dup (p.Lys2453_Phe2454insValIleGlyLys) duplication Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003494508] Chr16:88715811..88715812 [GRCh38]
Chr16:88782219..88782220 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6494AGA[3] (p.Lys2168_Lys2169del) microsatellite not provided [RCV003488207] Chr16:88717175..88717180 [GRCh38]
Chr16:88783583..88783588 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4748C>T (p.Ala1583Val) single nucleotide variant not provided [RCV003488235] Chr16:88722610 [GRCh38]
Chr16:88789018 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1913T>C (p.Met638Thr) single nucleotide variant not provided [RCV003488251] Chr16:88734734 [GRCh38]
Chr16:88801142 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6019A>T (p.Met2007Leu) single nucleotide variant not provided [RCV003488253] Chr16:88720214 [GRCh38]
Chr16:88786622 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met) single nucleotide variant not provided [RCV003740553] Chr16:88727061 [GRCh38]
Chr16:88793469 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.2156C>T (p.Thr719Met) single nucleotide variant not provided [RCV003488226] Chr16:88734380 [GRCh38]
Chr16:88800788 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3277_3278delinsA (p.Ala1093fs) indel not provided [RCV003489402] Chr16:88727580..88727581 [GRCh38]
Chr16:88793988..88793989 [GRCh37]
Chr16:16q24.3		 likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1 copy number loss not provided [RCV003483304] Chr16:88067200..89460290 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.2764G>T (p.Gly922Trp) single nucleotide variant PIEZO1-related condition [RCV003419149] Chr16:88732633 [GRCh38]
Chr16:88799041 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3700-18_3700-17insGCTGGCCCT microsatellite not provided [RCV003872566] Chr16:88726660..88726661 [GRCh38]
Chr16:88793068..88793069 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1195+2T>G single nucleotide variant not provided [RCV003480224] Chr16:88737557 [GRCh38]
Chr16:88803965 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2559G>A (p.Met853Ile) single nucleotide variant Lymphatic malformation 6 [RCV003458330] Chr16:88733383 [GRCh38]
Chr16:88799791 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2447A>G (p.Lys816Arg) single nucleotide variant PIEZO1-related condition [RCV003399504]|not provided [RCV003491376] Chr16:88733628 [GRCh38]
Chr16:88800036 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.353C>G (p.Ala118Gly) single nucleotide variant PIEZO1-related condition [RCV003399639] Chr16:88741590 [GRCh38]
Chr16:88807998 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.402C>T (p.Val134=) single nucleotide variant not provided [RCV003426905] Chr16:88741541 [GRCh38]
Chr16:88807949 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1534C>T (p.Pro512Ser) single nucleotide variant Inborn genetic diseases [RCV004364847]|not provided [RCV003480222] Chr16:88736171 [GRCh38]
Chr16:88802579 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1364C>T (p.Thr455Met) single nucleotide variant not provided [RCV003480223] Chr16:88736341 [GRCh38]
Chr16:88802749 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142864.4(PIEZO1):c.7463G>A (p.Arg2488Gln) single nucleotide variant not provided [RCV003480317] Chr16:88715708 [GRCh38]
Chr16:88782116 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.1536del (p.Cys513fs) deletion not provided [RCV003480328] Chr16:88736169 [GRCh38]
Chr16:88802577 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.1450_1453del (p.Trp484fs) deletion not provided [RCV003480331] Chr16:88736252..88736255 [GRCh38]
Chr16:88802660..88802663 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.6412T>G (p.Cys2138Gly) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003448849] Chr16:88719633 [GRCh38]
Chr16:88786041 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2227_2241del (p.Glu743_Gln747del) deletion not provided [RCV003480220] Chr16:88733994..88734008 [GRCh38]
Chr16:88800402..88800416 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3969-8C>G single nucleotide variant PIEZO1-related condition [RCV003946639]|not provided [RCV003480214] Chr16:88725692 [GRCh38]
Chr16:88792100 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.7234C>T (p.Arg2412Trp) single nucleotide variant not provided [RCV003480206] Chr16:88716015 [GRCh38]
Chr16:88782423 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88647290-88859285)x1 copy number loss not provided [RCV003483306] Chr16:88647290..88859285 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3797-3C>T single nucleotide variant not provided [RCV003480215] Chr16:88726458 [GRCh38]
Chr16:88792866 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6446T>A (p.Ile2149Asn) single nucleotide variant not provided [RCV003480208] Chr16:88719599 [GRCh38]
Chr16:88786007 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2293G>C (p.Val765Leu) single nucleotide variant not provided [RCV003691108] Chr16:88733942 [GRCh38]
Chr16:88800350 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2330-9_2330-2dup duplication Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003447816] Chr16:88733746..88733747 [GRCh38]
Chr16:88800154..88800155 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7368C>T (p.Arg2456=) single nucleotide variant PIEZO1-related condition [RCV003966372]|not provided [RCV003426894] Chr16:88715803 [GRCh38]
Chr16:88782211 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6264C>T (p.Arg2088=) single nucleotide variant not provided [RCV003426895] Chr16:88719861 [GRCh38]
Chr16:88786269 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5802G>A (p.Leu1934=) single nucleotide variant not provided [RCV003426897] Chr16:88720532 [GRCh38]
Chr16:88786940 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4350A>G (p.Ala1450=) single nucleotide variant not provided [RCV003426899] Chr16:88723314 [GRCh38]
Chr16:88789722 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.668A>T (p.Tyr223Phe) single nucleotide variant not provided [RCV003426904] Chr16:88738407 [GRCh38]
Chr16:88804815 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2247GGA[5] (p.Glu754_Glu756del) microsatellite not provided [RCV003488205] Chr16:88733965..88733973 [GRCh38]
Chr16:88800373..88800381 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7093G>A (p.Gly2365Arg) single nucleotide variant not provided [RCV003488215] Chr16:88716234 [GRCh38]
Chr16:88782642 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3096G>C (p.Gln1032His) single nucleotide variant not provided [RCV003488225] Chr16:88731806 [GRCh38]
Chr16:88798214 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4351T>C (p.Trp1451Arg) single nucleotide variant not provided [RCV003488233] Chr16:88723313 [GRCh38]
Chr16:88789721 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7168C>T (p.Arg2390Trp) single nucleotide variant not provided [RCV003488237] Chr16:88716081 [GRCh38]
Chr16:88782489 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6899C>T (p.Thr2300Ile) single nucleotide variant not provided [RCV003488238] Chr16:88716586 [GRCh38]
Chr16:88782994 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.695C>G (p.Thr232Ser) single nucleotide variant not provided [RCV003488240] Chr16:88738380 [GRCh38]
Chr16:88804788 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5556C>G (p.Asp1852Glu) single nucleotide variant not provided [RCV003488241] Chr16:88721278 [GRCh38]
Chr16:88787686 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4685G>A (p.Arg1562Lys) single nucleotide variant not provided [RCV003488250] Chr16:88722673 [GRCh38]
Chr16:88789081 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.674del (p.Leu225fs) deletion PIEZO1-related condition [RCV003394412] Chr16:88738401 [GRCh38]
Chr16:88804809 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.4530G>A (p.Thr1510=) single nucleotide variant not provided [RCV003419496] Chr16:88722975 [GRCh38]
Chr16:88789383 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5282G>A (p.Arg1761Gln) single nucleotide variant PIEZO1-related condition [RCV003420842] Chr16:88721659 [GRCh38]
Chr16:88788067 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2914C>T (p.Arg972Cys) single nucleotide variant not provided [RCV003480218] Chr16:88732412 [GRCh38]
Chr16:88798820 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3322T>G (p.Cys1108Gly) single nucleotide variant not provided [RCV003480217] Chr16:88727172 [GRCh38]
Chr16:88793580 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4196G>A (p.Arg1399Gln) single nucleotide variant not provided [RCV003480213] Chr16:88725047 [GRCh38]
Chr16:88791455 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4270G>A (p.Asp1424Asn) single nucleotide variant not provided [RCV003480212] Chr16:88723936 [GRCh38]
Chr16:88790344 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5218G>A (p.Ala1740Thr) single nucleotide variant PIEZO1-related condition [RCV003402638] Chr16:88721723 [GRCh38]
Chr16:88788131 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4939G>A (p.Glu1647Lys) single nucleotide variant not provided [RCV003426898] Chr16:88722234 [GRCh38]
Chr16:88788642 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3179C>T (p.Pro1060Leu) single nucleotide variant PIEZO1-related condition [RCV003419001] Chr16:88731723 [GRCh38]
Chr16:88798131 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2410G>A (p.Val804Met) single nucleotide variant PIEZO1-related condition [RCV003399737] Chr16:88733665 [GRCh38]
Chr16:88800073 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7149C>T (p.Leu2383=) single nucleotide variant PIEZO1-related condition [RCV003946553]|not provided [RCV003419490] Chr16:88716100 [GRCh38]
Chr16:88782508 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6381G>A (p.Thr2127=) single nucleotide variant not provided [RCV003419492] Chr16:88719664 [GRCh38]
Chr16:88786072 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5652A>G (p.Lys1884=) single nucleotide variant not provided [RCV003419493] Chr16:88721182 [GRCh38]
Chr16:88787590 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4965C>T (p.Arg1655=) single nucleotide variant not provided [RCV003419495] Chr16:88722057 [GRCh38]
Chr16:88788465 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.305C>T (p.Ser102Leu) single nucleotide variant not provided [RCV003419498] Chr16:88742074 [GRCh38]
Chr16:88808482 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6064T>C (p.Tyr2022His) single nucleotide variant PIEZO1-related condition [RCV003391515] Chr16:88720169 [GRCh38]
Chr16:88786577 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6811G>C (p.Glu2271Gln) single nucleotide variant PIEZO1-related condition [RCV003400288] Chr16:88716674 [GRCh38]
Chr16:88783082 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6398T>C (p.Leu2133Pro) single nucleotide variant not provided [RCV003419491] Chr16:88719647 [GRCh38]
Chr16:88786055 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5553G>A (p.Thr1851=) single nucleotide variant not provided [RCV003419494] Chr16:88721281 [GRCh38]
Chr16:88787689 [GRCh37]
Chr16:16q24.3		 likely benign
Single allele deletion KBG syndrome [RCV003388955] Chr16:88621654..89376245 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.1792G>C (p.Val598Leu) single nucleotide variant PIEZO1-related condition [RCV003412334] Chr16:88734931 [GRCh38]
Chr16:88801339 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7261G>A (p.Val2421Ile) single nucleotide variant PIEZO1-related condition [RCV003421146] Chr16:88715988 [GRCh38]
Chr16:88782396 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6349G>A (p.Glu2117Lys) single nucleotide variant PIEZO1-related condition [RCV003391663] Chr16:88719696 [GRCh38]
Chr16:88786104 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.3330C>T (p.Ser1110=) single nucleotide variant not provided [RCV003426901] Chr16:88727164 [GRCh38]
Chr16:88793572 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3026A>T (p.Gln1009Leu) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003388676] Chr16:88731876 [GRCh38]
Chr16:88798284 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003444070]|PIEZO1-related condition [RCV003406082] Chr16:88720225 [GRCh38]
Chr16:88786633 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.6473A>T (p.Lys2158Ile) single nucleotide variant not provided [RCV003456951] Chr16:88717210 [GRCh38]
Chr16:88783618 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3359G>A (p.Arg1120His) single nucleotide variant not provided [RCV003441562] Chr16:88727135 [GRCh38]
Chr16:88793543 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3855C>G (p.Ile1285Met) single nucleotide variant PIEZO1-related condition [RCV003406164] Chr16:88726397 [GRCh38]
Chr16:88792805 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5012G>A (p.Arg1671Gln) single nucleotide variant PIEZO1-related condition [RCV003414479]|not provided [RCV003778246] Chr16:88722010 [GRCh38]
Chr16:88788418 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.4328C>A (p.Ala1443Asp) single nucleotide variant PIEZO1-related condition [RCV003416735] Chr16:88723878 [GRCh38]
Chr16:88790286 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1718A>G (p.Lys573Arg) single nucleotide variant PIEZO1-related condition [RCV003410728]|not provided [RCV003481506] Chr16:88735005 [GRCh38]
Chr16:88801413 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2157_2180+28del deletion PIEZO1-related condition [RCV003405907] Chr16:88734328..88734379 [GRCh38]
Chr16:88800736..88800787 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.4072C>T (p.Arg1358Cys) single nucleotide variant PIEZO1-related condition [RCV003414547] Chr16:88725506 [GRCh38]
Chr16:88791914 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6073_6074del (p.Lys2025fs) deletion not provided [RCV003426896] Chr16:88720159..88720160 [GRCh38]
Chr16:88786567..88786568 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.3798C>T (p.Pro1266=) single nucleotide variant PIEZO1-related condition [RCV003954152]|not provided [RCV003426900] Chr16:88726454 [GRCh38]
Chr16:88792862 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6598G>C (p.Val2200Leu) single nucleotide variant PIEZO1-related condition [RCV003406084] Chr16:88717085 [GRCh38]
Chr16:88783493 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.570C>T (p.Val190=) single nucleotide variant not provided [RCV003413031] Chr16:88738632 [GRCh38]
Chr16:88805040 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.753G>A (p.Ala251=) single nucleotide variant not provided [RCV003413030] Chr16:88738322 [GRCh38]
Chr16:88804730 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1992C>T (p.Asp664=) single nucleotide variant not provided [RCV003413029] Chr16:88734655 [GRCh38]
Chr16:88801063 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4994T>C (p.Phe1665Ser) single nucleotide variant not provided [RCV003413028] Chr16:88722028 [GRCh38]
Chr16:88788436 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1086C>T (p.Pro362=) single nucleotide variant not provided [RCV003426903] Chr16:88737749 [GRCh38]
Chr16:88804157 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.772G>A (p.Gly258Ser) single nucleotide variant PIEZO1-related condition [RCV003419057] Chr16:88738303 [GRCh38]
Chr16:88804711 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1684C>G (p.Gln562Glu) single nucleotide variant PIEZO1-related condition [RCV003394340] Chr16:88735039 [GRCh38]
Chr16:88801447 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3734C>T (p.Thr1245Ile) single nucleotide variant not provided [RCV003419497] Chr16:88726609 [GRCh38]
Chr16:88793017 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1918G>A (p.Val640Ile) single nucleotide variant not provided [RCV003426902] Chr16:88734729 [GRCh38]
Chr16:88801137 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7049+9A>T single nucleotide variant PIEZO1-related condition [RCV003410654] Chr16:88716352 [GRCh38]
Chr16:88782760 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7226A>C (p.Gln2409Pro) single nucleotide variant PIEZO1-related condition [RCV003400092] Chr16:88716023 [GRCh38]
Chr16:88782431 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5758G>C (p.Val1920Leu) single nucleotide variant PIEZO1-related condition [RCV003399825] Chr16:88720659 [GRCh38]
Chr16:88787067 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2738C>T (p.Pro913Leu) single nucleotide variant PIEZO1-related condition [RCV003410881] Chr16:88732659 [GRCh38]
Chr16:88799067 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3815G>C (p.Arg1272Thr) single nucleotide variant PIEZO1-related condition [RCV003405946] Chr16:88726437 [GRCh38]
Chr16:88792845 [GRCh37]
Chr16:16q24.3		 uncertain significance
Single allele deletion KBG syndrome [RCV003388954] Chr16:88197484..89331695 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion KBG syndrome [RCV003388953] Chr16:87169884..89487487 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.3373C>T (p.Gln1125Ter) single nucleotide variant PIEZO1-related condition [RCV003403050]|not provided [RCV003699100] Chr16:88727121 [GRCh38]
Chr16:88793529 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001142864.4(PIEZO1):c.6882C>T (p.Asn2294=) single nucleotide variant not provided [RCV003545569] Chr16:88716603 [GRCh38]
Chr16:88783011 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys) single nucleotide variant not provided [RCV003488203] Chr16:88716650 [GRCh38]
Chr16:88783058 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.5827C>T (p.Arg1943Trp) single nucleotide variant not provided [RCV003488247] Chr16:88720507 [GRCh38]
Chr16:88786915 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.1361G>A (p.Trp454Ter) single nucleotide variant not provided [RCV003690693] Chr16:88736344 [GRCh38]
Chr16:88802752 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.6472-12G>A single nucleotide variant not provided [RCV003881595] Chr16:88717223 [GRCh38]
Chr16:88783631 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2926G>A (p.Asp976Asn) single nucleotide variant not provided [RCV003488219] Chr16:88732400 [GRCh38]
Chr16:88798808 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4387_4392del (p.Gln1463_Gln1464del) deletion not provided [RCV003488223] Chr16:88723272..88723277 [GRCh38]
Chr16:88789680..88789685 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3868G>T (p.Val1290Phe) single nucleotide variant not provided [RCV003488239] Chr16:88726384 [GRCh38]
Chr16:88792792 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6640C>G (p.Leu2214Val) single nucleotide variant not provided [RCV003488249] Chr16:88717043 [GRCh38]
Chr16:88783451 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3520G>C (p.Val1174Leu) single nucleotide variant not provided [RCV003488252] Chr16:88726894 [GRCh38]
Chr16:88793302 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3301+18C>A single nucleotide variant not provided [RCV003714891] Chr16:88727539 [GRCh38]
Chr16:88793947 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7231T>G (p.Cys2411Gly) single nucleotide variant not provided [RCV003882009] Chr16:88716018 [GRCh38]
Chr16:88782426 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1829T>G (p.Leu610Arg) single nucleotide variant not provided [RCV003577666] Chr16:88734894 [GRCh38]
Chr16:88801302 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.344del (p.Ile115fs) deletion not provided [RCV003489401] Chr16:88741599 [GRCh38]
Chr16:88808007 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.6067C>G (p.Leu2023Val) single nucleotide variant not provided [RCV003489403] Chr16:88720166 [GRCh38]
Chr16:88786574 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.1196-8A>G single nucleotide variant not provided [RCV003831762] Chr16:88736747 [GRCh38]
Chr16:88803155 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5296A>C (p.Lys1766Gln) single nucleotide variant not specified [RCV003494183] Chr16:88721645 [GRCh38]
Chr16:88788053 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2882T>G (p.Leu961Arg) single nucleotide variant not provided [RCV003694805] Chr16:88732444 [GRCh38]
Chr16:88798852 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.257G>A (p.Arg86His) single nucleotide variant not provided [RCV003544822] Chr16:88742326 [GRCh38]
Chr16:88808734 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6392T>C (p.Leu2131Pro) single nucleotide variant Polyhydramnios [RCV003494423] Chr16:88719653 [GRCh38]
Chr16:88786061 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2661C>T (p.Thr887=) single nucleotide variant not provided [RCV003553483] Chr16:88733281 [GRCh38]
Chr16:88799689 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.5559G>A (p.Gly1853=) single nucleotide variant not provided [RCV003659958] Chr16:88721275 [GRCh38]
Chr16:88787683 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1296+34CCTCTGCCGCGCAGGTGTGGGGCATCGCCTGGGTGGGGTGCGCTGGGCAGCTGTGCAGCCC[2] microsatellite not provided [RCV003880367] Chr16:88736423..88736483 [GRCh38]
Chr16:88802831..88802891 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2407C>G (p.Gln803Glu) single nucleotide variant not provided [RCV003488202] Chr16:88733668 [GRCh38]
Chr16:88800076 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.600G>A (p.Gly200=) single nucleotide variant not provided [RCV003882118] Chr16:88738602 [GRCh38]
Chr16:88805010 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2207T>C (p.Leu736Pro) single nucleotide variant not provided [RCV003488206] Chr16:88734028 [GRCh38]
Chr16:88800436 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2942G>A (p.Gly981Asp) single nucleotide variant not provided [RCV003488209] Chr16:88732384 [GRCh38]
Chr16:88798792 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5992G>A (p.Asp1998Asn) single nucleotide variant not provided [RCV003488213] Chr16:88720241 [GRCh38]
Chr16:88786649 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3707C>T (p.Ala1236Val) single nucleotide variant not provided [RCV003488214] Chr16:88726636 [GRCh38]
Chr16:88793044 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.253C>T (p.Pro85Ser) single nucleotide variant not provided [RCV003488221] Chr16:88742330 [GRCh38]
Chr16:88808738 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2966T>A (p.Phe989Tyr) single nucleotide variant not provided [RCV003488224] Chr16:88732360 [GRCh38]
Chr16:88798768 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4406_4416delinsAG (p.Ala1469_Gln1471del) indel not provided [RCV003488228] Chr16:88723248..88723258 [GRCh38]
Chr16:88789656..88789666 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.308G>A (p.Arg103Gln) single nucleotide variant not provided [RCV003488242] Chr16:88742071 [GRCh38]
Chr16:88808479 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1291A>T (p.Met431Leu) single nucleotide variant not provided [RCV003488248] Chr16:88736644 [GRCh38]
Chr16:88803052 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3585C>A (p.Tyr1195Ter) single nucleotide variant not provided [RCV003575405] Chr16:88726829 [GRCh38]
Chr16:88793237 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.4945C>G (p.Leu1649Val) single nucleotide variant not provided [RCV003576727] Chr16:88722228 [GRCh38]
Chr16:88788636 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4932G>T (p.Thr1644=) single nucleotide variant not provided [RCV003547893] Chr16:88722241 [GRCh38]
Chr16:88788649 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1233G>A (p.Pro411=) single nucleotide variant not provided [RCV003577937] Chr16:88736702 [GRCh38]
Chr16:88803110 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1303A>G (p.Ser435Gly) single nucleotide variant not specified [RCV003494119] Chr16:88736402 [GRCh38]
Chr16:88802810 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3699+14C>G single nucleotide variant not provided [RCV003829284] Chr16:88726701 [GRCh38]
Chr16:88793109 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1195+9C>T single nucleotide variant not provided [RCV003739700] Chr16:88737550 [GRCh38]
Chr16:88803958 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.834C>T (p.Ala278=) single nucleotide variant not provided [RCV003577984] Chr16:88738241 [GRCh38]
Chr16:88804649 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4061T>G (p.Met1354Arg) single nucleotide variant not provided [RCV003574174] Chr16:88725517 [GRCh38]
Chr16:88791925 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2403C>T (p.Arg801=) single nucleotide variant not provided [RCV003545412] Chr16:88733672 [GRCh38]
Chr16:88800080 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1101T>C (p.Ser367=) single nucleotide variant not provided [RCV003739175] Chr16:88737734 [GRCh38]
Chr16:88804142 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5681G>C (p.Arg1894Thr) single nucleotide variant not provided [RCV003488211] Chr16:88720736 [GRCh38]
Chr16:88787144 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5719A>G (p.Thr1907Ala) single nucleotide variant not provided [RCV003488212] Chr16:88720698 [GRCh38]
Chr16:88787106 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4027GAG[1] (p.Glu1344del) microsatellite not provided [RCV003488217] Chr16:88725621..88725623 [GRCh38]
Chr16:88792029..88792031 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2585C>T (p.Thr862Ile) single nucleotide variant not provided [RCV003488220] Chr16:88733357 [GRCh38]
Chr16:88799765 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7271G>C (p.Ser2424Thr) single nucleotide variant not provided [RCV003488227] Chr16:88715978 [GRCh38]
Chr16:88782386 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5866G>A (p.Ala1956Thr) single nucleotide variant not provided [RCV003488245] Chr16:88720468 [GRCh38]
Chr16:88786876 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5776C>T (p.Arg1926Trp) single nucleotide variant not provided [RCV003488254] Chr16:88720641 [GRCh38]
Chr16:88787049 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1163T>C (p.Leu388Pro) single nucleotide variant not provided [RCV003577230] Chr16:88737591 [GRCh38]
Chr16:88803999 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5099T>C (p.Met1700Thr) single nucleotide variant not provided [RCV003878289] Chr16:88721923 [GRCh38]
Chr16:88788331 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4478C>T (p.Pro1493Leu) single nucleotide variant not provided [RCV003878313] Chr16:88723112 [GRCh38]
Chr16:88789520 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2992-7T>A single nucleotide variant not provided [RCV003545561] Chr16:88731917 [GRCh38]
Chr16:88798325 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3699+11G>A single nucleotide variant not provided [RCV003881083] Chr16:88726704 [GRCh38]
Chr16:88793112 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4542G>A (p.Leu1514=) single nucleotide variant not provided [RCV003877682] Chr16:88722963 [GRCh38]
Chr16:88789371 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1682C>T (p.Thr561Met) single nucleotide variant not provided [RCV003488229] Chr16:88735041 [GRCh38]
Chr16:88801449 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.5792G>C (p.Cys1931Ser) single nucleotide variant not provided [RCV003688011] Chr16:88720625 [GRCh38]
Chr16:88787033 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4123_4140del (p.Gln1375_Pro1380del) deletion not provided [RCV003546439] Chr16:88725438..88725455 [GRCh38]
Chr16:88791846..88791863 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6754-3C>T single nucleotide variant not provided [RCV003690990] Chr16:88716734 [GRCh38]
Chr16:88783142 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4235-20_4235-19del microsatellite not provided [RCV003879726] Chr16:88723990..88723991 [GRCh38]
Chr16:88790398..88790399 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.849-18C>T single nucleotide variant not provided [RCV003714648] Chr16:88738123 [GRCh38]
Chr16:88804531 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.497C>T (p.Pro166Leu) single nucleotide variant not provided [RCV003545847] Chr16:88738705 [GRCh38]
Chr16:88805113 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4234+10A>C single nucleotide variant not provided [RCV003714686] Chr16:88724999 [GRCh38]
Chr16:88791407 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.283+8G>A single nucleotide variant not provided [RCV003663444] Chr16:88742292 [GRCh38]
Chr16:88808700 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2664+3A>G single nucleotide variant not provided [RCV003488200] Chr16:88733275 [GRCh38]
Chr16:88799683 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4856G>A (p.Ser1619Asn) single nucleotide variant not provided [RCV003488201] Chr16:88722317 [GRCh38]
Chr16:88788725 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2627T>A (p.Val876Asp) single nucleotide variant not provided [RCV003488208] Chr16:88733315 [GRCh38]
Chr16:88799723 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5035G>A (p.Val1679Met) single nucleotide variant not provided [RCV003488210] Chr16:88721987 [GRCh38]
Chr16:88788395 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4084_4086del (p.Glu1362del) deletion not provided [RCV003488218] Chr16:88725492..88725494 [GRCh38]
Chr16:88791900..88791902 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6784C>G (p.Pro2262Ala) single nucleotide variant not provided [RCV003488222] Chr16:88716701 [GRCh38]
Chr16:88783109 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4600C>T (p.Arg1534Trp) single nucleotide variant not provided [RCV003488230] Chr16:88722905 [GRCh38]
Chr16:88789313 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5862C>T (p.Tyr1954=) single nucleotide variant not provided [RCV003488231] Chr16:88720472 [GRCh38]
Chr16:88786880 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3364G>A (p.Glu1122Lys) single nucleotide variant not provided [RCV003488232] Chr16:88727130 [GRCh38]
Chr16:88793538 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3925C>T (p.His1309Tyr) single nucleotide variant not provided [RCV003488234] Chr16:88726327 [GRCh38]
Chr16:88792735 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2009T>G (p.Leu670Arg) single nucleotide variant not provided [RCV003488236] Chr16:88734527 [GRCh38]
Chr16:88800935 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5249G>C (p.Gly1750Ala) single nucleotide variant not provided [RCV003488244] Chr16:88721692 [GRCh38]
Chr16:88788100 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2764G>C (p.Gly922Arg) single nucleotide variant not provided [RCV003488246] Chr16:88732633 [GRCh38]
Chr16:88799041 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=) single nucleotide variant not provided [RCV003561499] Chr16:88720242 [GRCh38]
Chr16:88786650 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln) single nucleotide variant not provided [RCV003488216] Chr16:88741584 [GRCh38]
Chr16:88807992 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.2247GGA[10] (p.Glu756_Asp757insGluGlu) microsatellite PIEZO1-related condition [RCV003946650]|not provided [RCV003545497] Chr16:88733964..88733965 [GRCh38]
Chr16:88800372..88800373 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.172C>T (p.Arg58Cys) single nucleotide variant Inborn genetic diseases [RCV004369091]|not provided [RCV003546206] Chr16:88742411 [GRCh38]
Chr16:88808819 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.768C>T (p.Gly256=) single nucleotide variant PIEZO1-related condition [RCV003939064]|not provided [RCV003547046] Chr16:88738307 [GRCh38]
Chr16:88804715 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4426C>G (p.Gln1476Glu) single nucleotide variant not provided [RCV003852322] Chr16:88723238 [GRCh38]
Chr16:88789646 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2956T>G (p.Phe986Val) single nucleotide variant not provided [RCV003716862] Chr16:88732370 [GRCh38]
Chr16:88798778 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2911A>G (p.Thr971Ala) single nucleotide variant not provided [RCV003740604] Chr16:88732415 [GRCh38]
Chr16:88798823 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7366C>A (p.Arg2456Ser) single nucleotide variant not provided [RCV003740585] Chr16:88715805 [GRCh38]
Chr16:88782213 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4955+19C>G single nucleotide variant not provided [RCV003740620] Chr16:88722199 [GRCh38]
Chr16:88788607 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1049C>T (p.Ala350Val) single nucleotide variant not provided [RCV003548382] Chr16:88737786 [GRCh38]
Chr16:88804194 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1107+6C>T single nucleotide variant PIEZO1-related condition [RCV003929223]|not provided [RCV003548389] Chr16:88737722 [GRCh38]
Chr16:88804130 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001142864.4(PIEZO1):c.4167C>T (p.Pro1389=) single nucleotide variant not provided [RCV003836150] Chr16:88725076 [GRCh38]
Chr16:88791484 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6443T>C (p.Ile2148Thr) single nucleotide variant not provided [RCV003717480] Chr16:88719602 [GRCh38]
Chr16:88786010 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.1780G>A (p.Ala594Thr) single nucleotide variant not provided [RCV003548682] Chr16:88734943 [GRCh38]
Chr16:88801351 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5632A>G (p.Lys1878Glu) single nucleotide variant not provided [RCV003559398] Chr16:88721202 [GRCh38]
Chr16:88787610 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.64+7G>C single nucleotide variant PIEZO1-related condition [RCV003966666]|not provided [RCV003740516] Chr16:88784894 [GRCh38]
Chr16:88851302 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6223G>A (p.Ala2075Thr) single nucleotide variant not provided [RCV003718051] Chr16:88719902 [GRCh38]
Chr16:88786310 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4163-11C>G single nucleotide variant not provided [RCV003812212] Chr16:88725091 [GRCh38]
Chr16:88791499 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1877T>C (p.Leu626Pro) single nucleotide variant not provided [RCV003740587] Chr16:88734770 [GRCh38]
Chr16:88801178 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3700-18_3700-17insCCCCGCTGGCCCCGCTGA insertion not provided [RCV003740596] Chr16:88726660..88726661 [GRCh38]
Chr16:88793068..88793069 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.466-16T>C single nucleotide variant not provided [RCV003740619] Chr16:88738752 [GRCh38]
Chr16:88805160 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7151G>C (p.Gly2384Ala) single nucleotide variant not provided [RCV003740625] Chr16:88716098 [GRCh38]
Chr16:88782506 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4998G>A (p.Ala1666=) single nucleotide variant PIEZO1-related condition [RCV003949013]|not provided [RCV003740626] Chr16:88722024 [GRCh38]
Chr16:88788432 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2008C>T (p.Leu670=) single nucleotide variant not provided [RCV003560785] Chr16:88734528 [GRCh38]
Chr16:88800936 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2991+13C>T single nucleotide variant not provided [RCV003669522] Chr16:88732322 [GRCh38]
Chr16:88798730 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3983A>C (p.Tyr1328Ser) single nucleotide variant not provided [RCV003740510] Chr16:88725670 [GRCh38]
Chr16:88792078 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5355C>T (p.Tyr1785=) single nucleotide variant not provided [RCV003724823] Chr16:88721586 [GRCh38]
Chr16:88787994 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6803C>T (p.Ala2268Val) single nucleotide variant not provided [RCV003740546] Chr16:88716682 [GRCh38]
Chr16:88783090 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3864C>T (p.Asp1288=) single nucleotide variant not provided [RCV003740560] Chr16:88726388 [GRCh38]
Chr16:88792796 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6926+5G>A single nucleotide variant not provided [RCV003740641] Chr16:88716554 [GRCh38]
Chr16:88782962 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.327-8C>G single nucleotide variant not provided [RCV003703409] Chr16:88741624 [GRCh38]
Chr16:88808032 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5902G>A (p.Asp1968Asn) single nucleotide variant not provided [RCV003672909] Chr16:88720432 [GRCh38]
Chr16:88786840 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.466-7T>G single nucleotide variant not provided [RCV003663834] Chr16:88738743 [GRCh38]
Chr16:88805151 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4122C>T (p.Pro1374=) single nucleotide variant not provided [RCV003666828] Chr16:88725456 [GRCh38]
Chr16:88791864 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4816G>A (p.Asp1606Asn) single nucleotide variant not provided [RCV003817104] Chr16:88722357 [GRCh38]
Chr16:88788765 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3797-17C>T single nucleotide variant not provided [RCV003837002] Chr16:88726472 [GRCh38]
Chr16:88792880 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7434C>G (p.Leu2478=) single nucleotide variant not provided [RCV003702282] Chr16:88715737 [GRCh38]
Chr16:88782145 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3220G>A (p.Ala1074Thr) single nucleotide variant not provided [RCV003726134] Chr16:88727638 [GRCh38]
Chr16:88794046 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5653G>A (p.Gly1885Arg) single nucleotide variant not provided [RCV003674192] Chr16:88721181 [GRCh38]
Chr16:88787589 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5801+12C>T single nucleotide variant not provided [RCV003814254] Chr16:88720604 [GRCh38]
Chr16:88787012 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.112C>T (p.Leu38=) single nucleotide variant not provided [RCV003740503] Chr16:88749432 [GRCh38]
Chr16:88815840 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2168G>A (p.Arg723His) single nucleotide variant not provided [RCV003837128] Chr16:88734368 [GRCh38]
Chr16:88800776 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2991+15T>C single nucleotide variant not provided [RCV003740653] Chr16:88732320 [GRCh38]
Chr16:88798728 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4927C>G (p.Arg1643Gly) single nucleotide variant not provided [RCV003558182] Chr16:88722246 [GRCh38]
Chr16:88788654 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5885C>T (p.Ala1962Val) single nucleotide variant not provided [RCV003698464] Chr16:88720449 [GRCh38]
Chr16:88786857 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.466G>A (p.Asp156Asn) single nucleotide variant not provided [RCV003668868] Chr16:88738736 [GRCh38]
Chr16:88805144 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6342C>G (p.Phe2114Leu) single nucleotide variant not provided [RCV003740579] Chr16:88719703 [GRCh38]
Chr16:88786111 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7239C>A (p.Thr2413=) single nucleotide variant not provided [RCV003667520] Chr16:88716010 [GRCh38]
Chr16:88782418 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1428G>A (p.Thr476=) single nucleotide variant not provided [RCV003740603] Chr16:88736277 [GRCh38]
Chr16:88802685 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4840G>A (p.Gly1614Ser) single nucleotide variant not provided [RCV003566505] Chr16:88722333 [GRCh38]
Chr16:88788741 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1195+15C>G single nucleotide variant not provided [RCV003840658] Chr16:88737544 [GRCh38]
Chr16:88803952 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5034C>T (p.Ala1678=) single nucleotide variant not provided [RCV003552982] Chr16:88721988 [GRCh38]
Chr16:88788396 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4234+17C>T single nucleotide variant not provided [RCV003820974] Chr16:88724992 [GRCh38]
Chr16:88791400 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1930G>A (p.Val644Ile) single nucleotide variant not provided [RCV003556804] Chr16:88734717 [GRCh38]
Chr16:88801125 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4287G>A (p.Glu1429=) single nucleotide variant not provided [RCV003736190] Chr16:88723919 [GRCh38]
Chr16:88790327 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.130T>A (p.Phe44Ile) single nucleotide variant not provided [RCV003728816] Chr16:88749414 [GRCh38]
Chr16:88815822 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser) single nucleotide variant not provided [RCV003728759] Chr16:88720488 [GRCh38]
Chr16:88786896 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity
NM_001142864.4(PIEZO1):c.5807A>G (p.Gln1936Arg) single nucleotide variant not provided [RCV003563330] Chr16:88720527 [GRCh38]
Chr16:88786935 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5603G>A (p.Arg1868His) single nucleotide variant not provided [RCV003731415] Chr16:88721231 [GRCh38]
Chr16:88787639 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2180+10dup duplication not provided [RCV003862065] Chr16:88734345..88734346 [GRCh38]
Chr16:88800753..88800754 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4148C>G (p.Pro1383Arg) single nucleotide variant not provided [RCV003679257] Chr16:88725430 [GRCh38]
Chr16:88791838 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1775G>C (p.Ser592Thr) single nucleotide variant not provided [RCV003705806] Chr16:88734948 [GRCh38]
Chr16:88801356 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6019A>C (p.Met2007Leu) single nucleotide variant not provided [RCV003727164] Chr16:88720214 [GRCh38]
Chr16:88786622 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001142864.4(PIEZO1):c.2395C>T (p.Leu799Phe) single nucleotide variant not provided [RCV003556828] Chr16:88733680 [GRCh38]
Chr16:88800088 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4496-6C>G single nucleotide variant not provided [RCV003729912] Chr16:88723015 [GRCh38]
Chr16:88789423 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.766G>A (p.Gly256Ser) single nucleotide variant not provided [RCV003729430] Chr16:88738309 [GRCh38]
Chr16:88804717 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6041C>T (p.Thr2014Ile) single nucleotide variant not provided [RCV003842992] Chr16:88720192 [GRCh38]
Chr16:88786600 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2415C>T (p.Phe805=) single nucleotide variant not provided [RCV003680924] Chr16:88733660 [GRCh38]
Chr16:88800068 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6751C>T (p.Pro2251Ser) single nucleotide variant not provided [RCV003733529] Chr16:88716808 [GRCh38]
Chr16:88783216 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2004G>T (p.Gly668=) single nucleotide variant not provided [RCV003557226] Chr16:88734532 [GRCh38]
Chr16:88800940 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.307C>G (p.Arg103Gly) single nucleotide variant not provided [RCV003722035] Chr16:88742072 [GRCh38]
Chr16:88808480 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1299A>G (p.Val433=) single nucleotide variant not provided [RCV003720377] Chr16:88736406 [GRCh38]
Chr16:88802814 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3441C>T (p.Asn1147=) single nucleotide variant not provided [RCV003737504] Chr16:88727053 [GRCh38]
Chr16:88793461 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.2285G>A (p.Gly762Glu) single nucleotide variant Inborn genetic diseases [RCV004369626]|not provided [RCV003871356] Chr16:88733950 [GRCh38]
Chr16:88800358 [GRCh37]
Chr16:16q24.3		 benign|uncertain significance
NM_001142864.4(PIEZO1):c.2552G>A (p.Arg851Gln) single nucleotide variant not provided [RCV003728899] Chr16:88733390 [GRCh38]
Chr16:88799798 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4955+16G>T single nucleotide variant not provided [RCV003736487] Chr16:88722202 [GRCh38]
Chr16:88788610 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4620C>T (p.Ser1540=) single nucleotide variant not provided [RCV003736490] Chr16:88722885 [GRCh38]
Chr16:88789293 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.284-15C>G single nucleotide variant not provided [RCV003736499] Chr16:88742110 [GRCh38]
Chr16:88808518 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.557C>G (p.Ala186Gly) single nucleotide variant not provided [RCV003736500] Chr16:88738645 [GRCh38]
Chr16:88805053 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2415C>A (p.Phe805Leu) single nucleotide variant not provided [RCV003736502] Chr16:88733660 [GRCh38]
Chr16:88800068 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1314C>T (p.Tyr438=) single nucleotide variant not provided [RCV003736510] Chr16:88736391 [GRCh38]
Chr16:88802799 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2180+11G>A single nucleotide variant not provided [RCV003736514] Chr16:88734345 [GRCh38]
Chr16:88800753 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5742C>A (p.Ser1914Arg) single nucleotide variant not provided [RCV003872312] Chr16:88720675 [GRCh38]
Chr16:88787083 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6661-14C>T single nucleotide variant not provided [RCV003872315] Chr16:88716912 [GRCh38]
Chr16:88783320 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7150G>A (p.Gly2384Ser) single nucleotide variant not provided [RCV003719776] Chr16:88716099 [GRCh38]
Chr16:88782507 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5668+9G>A single nucleotide variant PIEZO1-related condition [RCV003929303]|not provided [RCV003720016] Chr16:88721157 [GRCh38]
Chr16:88787565 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7316+10T>C single nucleotide variant PIEZO1-related condition [RCV003892313] Chr16:88715923 [GRCh38]
Chr16:88782331 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7130-10T>C single nucleotide variant not provided [RCV003737137] Chr16:88716129 [GRCh38]
Chr16:88782537 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5826A>G (p.Leu1942=) single nucleotide variant PIEZO1-related condition [RCV003892282] Chr16:88720508 [GRCh38]
Chr16:88786916 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5481C>T (p.Ala1827=) single nucleotide variant not provided [RCV003719900] Chr16:88721353 [GRCh38]
Chr16:88787761 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6150C>T (p.Pro2050=) single nucleotide variant PIEZO1-related condition [RCV003948955]|not provided [RCV003719928] Chr16:88720083 [GRCh38]
Chr16:88786491 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3 copy number gain not specified [RCV003987174] Chr16:88445361..88818583 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2530G>A (p.Ala844Thr) single nucleotide variant not provided [RCV003869843] Chr16:88733412 [GRCh38]
Chr16:88799820 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5214+17G>C single nucleotide variant not provided [RCV003845376] Chr16:88721791 [GRCh38]
Chr16:88788199 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2338A>C (p.Lys780Gln) single nucleotide variant not provided [RCV003705398] Chr16:88733737 [GRCh38]
Chr16:88800145 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4701G>A (p.Gln1567=) single nucleotide variant not provided [RCV003719573] Chr16:88722657 [GRCh38]
Chr16:88789065 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.5691_5705del (p.Glu1898_Glu1902del) deletion not provided [RCV003721634] Chr16:88720712..88720726 [GRCh38]
Chr16:88787120..88787134 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1 copy number loss not specified [RCV003987173] Chr16:88153961..89104917 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2673C>T (p.Pro891=) single nucleotide variant PIEZO1-related condition [RCV003901355]|not provided [RCV003729057] Chr16:88732724 [GRCh38]
Chr16:88799132 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.6108G>T (p.Ala2036=) single nucleotide variant PIEZO1-related condition [RCV003956554]|not provided [RCV003736392] Chr16:88720125 [GRCh38]
Chr16:88786533 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1152C>T (p.Ile384=) single nucleotide variant not provided [RCV003736393] Chr16:88737602 [GRCh38]
Chr16:88804010 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4775+17C>T single nucleotide variant not provided [RCV003736395] Chr16:88722566 [GRCh38]
Chr16:88788974 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3324C>T (p.Cys1108=) single nucleotide variant not provided [RCV003736411] Chr16:88727170 [GRCh38]
Chr16:88793578 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.64+12dup duplication not provided [RCV003848595] Chr16:88784888..88784889 [GRCh38]
Chr16:88851296..88851297 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.7522C>A (p.Arg2508Ser) single nucleotide variant not provided [RCV003736441] Chr16:88715649 [GRCh38]
Chr16:88782057 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4785C>T (p.Gly1595=) single nucleotide variant not provided [RCV003736448] Chr16:88722388 [GRCh38]
Chr16:88788796 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5706G>A (p.Glu1902=) single nucleotide variant not provided [RCV003736476] Chr16:88720711 [GRCh38]
Chr16:88787119 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5598G>A (p.Thr1866=) single nucleotide variant not provided [RCV003736482] Chr16:88721236 [GRCh38]
Chr16:88787644 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1819C>T (p.Leu607Phe) single nucleotide variant not provided [RCV003736485] Chr16:88734904 [GRCh38]
Chr16:88801312 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3501C>T (p.Phe1167=) single nucleotide variant not provided [RCV003736525] Chr16:88726913 [GRCh38]
Chr16:88793321 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2152G>A (p.Gly718Ser) single nucleotide variant not provided [RCV003736470] Chr16:88734384 [GRCh38]
Chr16:88800792 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2460G>A (p.Leu820=) single nucleotide variant PIEZO1-related condition [RCV003981120]|not provided [RCV003736460] Chr16:88733615 [GRCh38]
Chr16:88800023 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.920G>A (p.Gly307Asp) single nucleotide variant not provided [RCV003736457] Chr16:88738034 [GRCh38]
Chr16:88804442 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3578G>T (p.Cys1193Phe) single nucleotide variant not provided [RCV003733415] Chr16:88726836 [GRCh38]
Chr16:88793244 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.6998C>G (p.Thr2333Ser) single nucleotide variant not provided [RCV003865759] Chr16:88716412 [GRCh38]
Chr16:88782820 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5098A>G (p.Met1700Val) single nucleotide variant not provided [RCV003736417] Chr16:88721924 [GRCh38]
Chr16:88788332 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6519C>T (p.Tyr2173=) single nucleotide variant not provided [RCV003736423] Chr16:88717164 [GRCh38]
Chr16:88783572 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4024A>T (p.Ile1342Leu) single nucleotide variant not provided [RCV003556918] Chr16:88725629 [GRCh38]
Chr16:88792037 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7128C>T (p.Pro2376=) single nucleotide variant not provided [RCV003820654] Chr16:88716199 [GRCh38]
Chr16:88782607 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5762G>C (p.Arg1921Thr) single nucleotide variant not provided [RCV003710518] Chr16:88720655 [GRCh38]
Chr16:88787063 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5774G>A (p.Arg1925Gln) single nucleotide variant not provided [RCV003551199] Chr16:88720643 [GRCh38]
Chr16:88787051 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.4164G>A (p.Gly1388=) single nucleotide variant not provided [RCV003843303] Chr16:88725079 [GRCh38]
Chr16:88791487 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2652C>T (p.Ser884=) single nucleotide variant PIEZO1-related condition [RCV003909161]|not provided [RCV003819931] Chr16:88733290 [GRCh38]
Chr16:88799698 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001142864.4(PIEZO1):c.3699+20G>A single nucleotide variant not provided [RCV003845467] Chr16:88726695 [GRCh38]
Chr16:88793103 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3711C>T (p.Cys1237=) single nucleotide variant not provided [RCV003733110] Chr16:88726632 [GRCh38]
Chr16:88793040 [GRCh37]
Chr16:16q24.3		 benign
NM_001142864.4(PIEZO1):c.3491G>C (p.Arg1164Pro) single nucleotide variant not provided [RCV003541796] Chr16:88726923 [GRCh38]
Chr16:88793331 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2375C>T (p.Ala792Val) single nucleotide variant not provided [RCV003861428] Chr16:88733700 [GRCh38]
Chr16:88800108 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6940G>A (p.Gly2314Arg) single nucleotide variant not provided [RCV003541795] Chr16:88716470 [GRCh38]
Chr16:88782878 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1108-5C>T single nucleotide variant not provided [RCV003734323] Chr16:88737651 [GRCh38]
Chr16:88804059 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6662C>T (p.Pro2221Leu) single nucleotide variant not provided [RCV003822845] Chr16:88716897 [GRCh38]
Chr16:88783305 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2330-6T>C single nucleotide variant not provided [RCV003993098] Chr16:88733751 [GRCh38]
Chr16:88800159 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2544A>G (p.Pro848=) single nucleotide variant PIEZO1-related condition [RCV003899023] Chr16:88733398 [GRCh38]
Chr16:88799806 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.951C>G (p.Gly317=) single nucleotide variant PIEZO1-related condition [RCV003954881] Chr16:88738003 [GRCh38]
Chr16:88804411 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3700-5C>A single nucleotide variant PIEZO1-related condition [RCV003899189] Chr16:88726648 [GRCh38]
Chr16:88793056 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1670-7C>T single nucleotide variant PIEZO1-related condition [RCV003894355] Chr16:88735060 [GRCh38]
Chr16:88801468 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3786C>G (p.Gly1262=) single nucleotide variant PIEZO1-related condition [RCV003894674] Chr16:88726557 [GRCh38]
Chr16:88792965 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5298G>T (p.Lys1766Asn) single nucleotide variant PIEZO1-related condition [RCV003894675] Chr16:88721643 [GRCh38]
Chr16:88788051 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3785G>A (p.Gly1262Asp) single nucleotide variant Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema [RCV003989006] Chr16:88726558 [GRCh38]
Chr16:88792966 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4137C>T (p.Gly1379=) single nucleotide variant PIEZO1-related condition [RCV003896603] Chr16:88725441 [GRCh38]
Chr16:88791849 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2967C>T (p.Phe989=) single nucleotide variant PIEZO1-related condition [RCV003952012] Chr16:88732359 [GRCh38]
Chr16:88798767 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5400G>T (p.Leu1800=) single nucleotide variant PIEZO1-related condition [RCV003904388] Chr16:88721541 [GRCh38]
Chr16:88787949 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1188G>A (p.Arg396=) single nucleotide variant not provided [RCV003993037] Chr16:88737566 [GRCh38]
Chr16:88803974 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7071C>T (p.Pro2357=) single nucleotide variant PIEZO1-related condition [RCV003947294] Chr16:88716256 [GRCh38]
Chr16:88782664 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3350C>T (p.Ser1117Leu) single nucleotide variant PIEZO1-related condition [RCV003955382] Chr16:88727144 [GRCh38]
Chr16:88793552 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.539G>A (p.Arg180Gln) single nucleotide variant PIEZO1-related condition [RCV003977215] Chr16:88738663 [GRCh38]
Chr16:88805071 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2379C>T (p.Ala793=) single nucleotide variant not provided [RCV003993086] Chr16:88733696 [GRCh38]
Chr16:88800104 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7391A>G (p.His2464Arg) single nucleotide variant PIEZO1-related condition [RCV003907251] Chr16:88715780 [GRCh38]
Chr16:88782188 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.648C>T (p.Pro216=) single nucleotide variant PIEZO1-related condition [RCV003956770] Chr16:88738427 [GRCh38]
Chr16:88804835 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.972C>T (p.Tyr324=) single nucleotide variant PIEZO1-related condition [RCV003956781] Chr16:88737982 [GRCh38]
Chr16:88804390 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2181-7C>T single nucleotide variant PIEZO1-related condition [RCV003949360] Chr16:88734061 [GRCh38]
Chr16:88800469 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3750C>T (p.Val1250=) single nucleotide variant PIEZO1-related condition [RCV003949837] Chr16:88726593 [GRCh38]
Chr16:88793001 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.284-5T>C single nucleotide variant PIEZO1-related condition [RCV003979128] Chr16:88742100 [GRCh38]
Chr16:88808508 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5238G>T (p.Leu1746=) single nucleotide variant PIEZO1-related condition [RCV003957417] Chr16:88721703 [GRCh38]
Chr16:88788111 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3357G>A (p.Glu1119=) single nucleotide variant PIEZO1-related condition [RCV003901711] Chr16:88727137 [GRCh38]
Chr16:88793545 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3936C>T (p.Ala1312=) single nucleotide variant PIEZO1-related condition [RCV003901955] Chr16:88726316 [GRCh38]
Chr16:88792724 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4948C>T (p.Leu1650=) single nucleotide variant PIEZO1-related condition [RCV003896579] Chr16:88722225 [GRCh38]
Chr16:88788633 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6660+10T>A single nucleotide variant PIEZO1-related condition [RCV003904626] Chr16:88717013 [GRCh38]
Chr16:88783421 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1401G>A (p.Ser467=) single nucleotide variant PIEZO1-related condition [RCV003959628]|not provided [RCV003992818] Chr16:88736304 [GRCh38]
Chr16:88802712 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2180+3G>A single nucleotide variant PIEZO1-related condition [RCV003969490] Chr16:88734353 [GRCh38]
Chr16:88800761 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3735C>T (p.Thr1245=) single nucleotide variant PIEZO1-related condition [RCV003957023] Chr16:88726608 [GRCh38]
Chr16:88793016 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3848C>G (p.Ala1283Gly) single nucleotide variant PIEZO1-related condition [RCV003983340] Chr16:88726404 [GRCh38]
Chr16:88792812 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.225C>T (p.Leu75=) single nucleotide variant PIEZO1-related condition [RCV003969619] Chr16:88742358 [GRCh38]
Chr16:88808766 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.161-4G>A single nucleotide variant PIEZO1-related condition [RCV003969671] Chr16:88742426 [GRCh38]
Chr16:88808834 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4955+7dup duplication PIEZO1-related condition [RCV003944698] Chr16:88722210..88722211 [GRCh38]
Chr16:88788618..88788619 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3138G>A (p.Ala1046=) single nucleotide variant PIEZO1-related condition [RCV003902181] Chr16:88731764 [GRCh38]
Chr16:88798172 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2202C>T (p.Thr734=) single nucleotide variant PIEZO1-related condition [RCV003961585] Chr16:88734033 [GRCh38]
Chr16:88800441 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6339G>A (p.Pro2113=) single nucleotide variant PIEZO1-related condition [RCV003912291] Chr16:88719706 [GRCh38]
Chr16:88786114 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.141C>T (p.Pro47=) single nucleotide variant not provided [RCV003887445] Chr16:88749403 [GRCh38]
Chr16:88815811 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.189G>A (p.Leu63=) single nucleotide variant PIEZO1-related condition [RCV003893718] Chr16:88742394 [GRCh38]
Chr16:88808802 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5206T>C (p.Phe1736Leu) single nucleotide variant not provided [RCV003887416] Chr16:88721816 [GRCh38]
Chr16:88788224 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3183G>A (p.Pro1061=) single nucleotide variant PIEZO1-related condition [RCV003949361] Chr16:88731719 [GRCh38]
Chr16:88798127 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.526C>G (p.Leu176Val) single nucleotide variant PIEZO1-related condition [RCV003896536] Chr16:88738676 [GRCh38]
Chr16:88805084 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4055G>T (p.Arg1352Ile) single nucleotide variant PIEZO1-related condition [RCV003896499] Chr16:88725598 [GRCh38]
Chr16:88792006 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6660+9G>T single nucleotide variant PIEZO1-related condition [RCV003896620] Chr16:88717014 [GRCh38]
Chr16:88783422 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4877C>T (p.Thr1626Ile) single nucleotide variant not provided [RCV003887697] Chr16:88722296 [GRCh38]
Chr16:88788704 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2355T>C (p.Ala785=) single nucleotide variant PIEZO1-related condition [RCV003949753] Chr16:88733720 [GRCh38]
Chr16:88800128 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2791-4G>A single nucleotide variant PIEZO1-related condition [RCV003929481] Chr16:88732539 [GRCh38]
Chr16:88798947 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5488G>T (p.Gly1830Trp) single nucleotide variant PIEZO1-related condition [RCV003979653] Chr16:88721346 [GRCh38]
Chr16:88787754 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3672C>A (p.Thr1224=) single nucleotide variant PIEZO1-related condition [RCV003894202] Chr16:88726742 [GRCh38]
Chr16:88793150 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6699C>A (p.Ile2233=) single nucleotide variant PIEZO1-related condition [RCV003894208] Chr16:88716860 [GRCh38]
Chr16:88783268 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.480G>A (p.Arg160=) single nucleotide variant PIEZO1-related condition [RCV003913818] Chr16:88738722 [GRCh38]
Chr16:88805130 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2488-66CCCAAGCCCAGCCCCACGTGCCCACTGCCCTC[4] microsatellite PIEZO1-related condition [RCV003972007] Chr16:88733456..88733457 [GRCh38]
Chr16:88799864..88799865 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3987C>T (p.Asn1329=) single nucleotide variant PIEZO1-related condition [RCV003964503] Chr16:88725666 [GRCh38]
Chr16:88792074 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3568C>T (p.Leu1190=) single nucleotide variant PIEZO1-related condition [RCV003944075] Chr16:88726846 [GRCh38]
Chr16:88793254 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2992-10C>T single nucleotide variant PIEZO1-related condition [RCV003901847] Chr16:88731920 [GRCh38]
Chr16:88798328 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3795C>T (p.Asp1265=) single nucleotide variant PIEZO1-related condition [RCV003901590] Chr16:88726548 [GRCh38]
Chr16:88792956 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3696G>A (p.Leu1232=) single nucleotide variant PIEZO1-related condition [RCV003967092] Chr16:88726718 [GRCh38]
Chr16:88793126 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2111C>T (p.Pro704Leu) single nucleotide variant PIEZO1-related condition [RCV003922162] Chr16:88734425 [GRCh38]
Chr16:88800833 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.284-8_284-5del deletion PIEZO1-related condition [RCV003981313] Chr16:88742100..88742103 [GRCh38]
Chr16:88808508..88808511 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1 copy number loss not provided [RCV003885482] Chr16:87866576..89424113 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001142864.4(PIEZO1):c.848+8C>T single nucleotide variant PIEZO1-related condition [RCV003951586] Chr16:88738219 [GRCh38]
Chr16:88804627 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2488-66CCCAAGCCCAGCCCCACGTGCCCACTGCCCTC[3] microsatellite PIEZO1-related condition [RCV003927373] Chr16:88733456..88733457 [GRCh38]
Chr16:88799864..88799865 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1093C>T (p.Arg365Trp) single nucleotide variant PIEZO1-related condition [RCV003934140] Chr16:88737742 [GRCh38]
Chr16:88804150 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1782C>A (p.Ala594=) single nucleotide variant not provided [RCV003887630] Chr16:88734941 [GRCh38]
Chr16:88801349 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4341G>A (p.Ala1447=) single nucleotide variant PIEZO1-related condition [RCV003904457] Chr16:88723323 [GRCh38]
Chr16:88789731 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2097C>T (p.His699=) single nucleotide variant PIEZO1-related condition [RCV003904335] Chr16:88734439 [GRCh38]
Chr16:88800847 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4491G>A (p.Ala1497=) single nucleotide variant PIEZO1-related condition [RCV003904506] Chr16:88723099 [GRCh38]
Chr16:88789507 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4851G>A (p.Thr1617=) single nucleotide variant PIEZO1-related condition [RCV003893994] Chr16:88722322 [GRCh38]
Chr16:88788730 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.84C>T (p.Ser28=) single nucleotide variant PIEZO1-related condition [RCV003949777] Chr16:88749460 [GRCh38]
Chr16:88815868 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.4725C>T (p.Ala1575=) single nucleotide variant PIEZO1-related condition [RCV003968939] Chr16:88722633 [GRCh38]
Chr16:88789041 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6789G>C (p.Glu2263Asp) single nucleotide variant not provided [RCV003884226] Chr16:88716696 [GRCh38]
Chr16:88783104 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1731C>T (p.Ala577=) single nucleotide variant PIEZO1-related condition [RCV003954546] Chr16:88734992 [GRCh38]
Chr16:88801400 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.1908C>T (p.Tyr636=) single nucleotide variant not provided [RCV003885032] Chr16:88734739 [GRCh38]
Chr16:88801147 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2648C>A (p.Ser883Tyr) single nucleotide variant PIEZO1-related condition [RCV003982622] Chr16:88733294 [GRCh38]
Chr16:88799702 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3411G>A (p.Pro1137=) single nucleotide variant PIEZO1-related condition [RCV003911894] Chr16:88727083 [GRCh38]
Chr16:88793491 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5108C>T (p.Ala1703Val) single nucleotide variant PIEZO1-related condition [RCV003899306] Chr16:88721914 [GRCh38]
Chr16:88788322 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5030G>A (p.Arg1677Gln) single nucleotide variant not provided [RCV003884108] Chr16:88721992 [GRCh38]
Chr16:88788400 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5388C>T (p.His1796=) single nucleotide variant PIEZO1-related condition [RCV003894400] Chr16:88721553 [GRCh38]
Chr16:88787961 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6417G>A (p.Val2139=) single nucleotide variant PIEZO1-related condition [RCV003971864] Chr16:88719628 [GRCh38]
Chr16:88786036 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5211C>T (p.Thr1737=) single nucleotide variant PIEZO1-related condition [RCV003921602] Chr16:88721811 [GRCh38]
Chr16:88788219 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3951C>T (p.Thr1317=) single nucleotide variant not provided [RCV003884996] Chr16:88726301 [GRCh38]
Chr16:88792709 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7386C>T (p.Ile2462=) single nucleotide variant PIEZO1-related condition [RCV003971982] Chr16:88715785 [GRCh38]
Chr16:88782193 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.6954G>A (p.Glu2318=) single nucleotide variant PIEZO1-related condition [RCV003901487] Chr16:88716456 [GRCh38]
Chr16:88782864 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.24G>C (p.Ala8=) single nucleotide variant PIEZO1-related condition [RCV003902314] Chr16:88784941 [GRCh38]
Chr16:88851349 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.7239C>G (p.Thr2413=) single nucleotide variant PIEZO1-related condition [RCV003951539] Chr16:88716010 [GRCh38]
Chr16:88782418 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3975C>T (p.Phe1325=) single nucleotide variant PIEZO1-related condition [RCV003946901] Chr16:88725678 [GRCh38]
Chr16:88792086 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2791-6C>T single nucleotide variant PIEZO1-related condition [RCV003904554] Chr16:88732541 [GRCh38]
Chr16:88798949 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2274C>T (p.Ser758=) single nucleotide variant PIEZO1-related condition [RCV003969000] Chr16:88733961 [GRCh38]
Chr16:88800369 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5040C>A (p.Tyr1680Ter) single nucleotide variant Diffuse lymphatic malformation [RCV004018307] Chr16:88721982 [GRCh38]
Chr16:88788390 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001142864.4(PIEZO1):c.2233C>G (p.Gln745Glu) single nucleotide variant Inborn genetic diseases [RCV004503570] Chr16:88734002 [GRCh38]
Chr16:88800410 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2867A>G (p.His956Arg) single nucleotide variant Inborn genetic diseases [RCV004503578] Chr16:88732459 [GRCh38]
Chr16:88798867 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3277G>A (p.Ala1093Thr) single nucleotide variant Inborn genetic diseases [RCV004503583] Chr16:88727581 [GRCh38]
Chr16:88793989 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3449A>G (p.His1150Arg) single nucleotide variant Inborn genetic diseases [RCV004503586] Chr16:88727045 [GRCh38]
Chr16:88793453 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4103G>T (p.Arg1368Leu) single nucleotide variant Inborn genetic diseases [RCV004503593] Chr16:88725475 [GRCh38]
Chr16:88791883 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4732C>T (p.Pro1578Ser) single nucleotide variant Inborn genetic diseases [RCV004503600] Chr16:88722626 [GRCh38]
Chr16:88789034 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5135T>G (p.Val1712Gly) single nucleotide variant Inborn genetic diseases [RCV004503602] Chr16:88721887 [GRCh38]
Chr16:88788295 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.536C>T (p.Thr179Ile) single nucleotide variant Inborn genetic diseases [RCV004503605] Chr16:88738666 [GRCh38]
Chr16:88805074 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5617T>C (p.Phe1873Leu) single nucleotide variant Inborn genetic diseases [RCV004503609] Chr16:88721217 [GRCh38]
Chr16:88787625 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5777G>T (p.Arg1926Leu) single nucleotide variant Inborn genetic diseases [RCV004503616] Chr16:88720640 [GRCh38]
Chr16:88787048 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5890A>G (p.Met1964Val) single nucleotide variant Inborn genetic diseases [RCV004503619] Chr16:88720444 [GRCh38]
Chr16:88786852 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6071G>A (p.Arg2024His) single nucleotide variant Inborn genetic diseases [RCV004503622] Chr16:88720162 [GRCh38]
Chr16:88786570 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6112G>C (p.Val2038Leu) single nucleotide variant Inborn genetic diseases [RCV004503623] Chr16:88720121 [GRCh38]
Chr16:88786529 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.620T>C (p.Leu207Pro) single nucleotide variant Inborn genetic diseases [RCV004503625] Chr16:88738582 [GRCh38]
Chr16:88804990 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6251G>A (p.Gly2084Asp) single nucleotide variant Inborn genetic diseases [RCV004503626] Chr16:88719874 [GRCh38]
Chr16:88786282 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6484C>A (p.Pro2162Thr) single nucleotide variant Inborn genetic diseases [RCV004503627] Chr16:88717199 [GRCh38]
Chr16:88783607 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6895A>G (p.Ile2299Val) single nucleotide variant Inborn genetic diseases [RCV004503628] Chr16:88716590 [GRCh38]
Chr16:88782998 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7370G>C (p.Gly2457Ala) single nucleotide variant Inborn genetic diseases [RCV004503633] Chr16:88715801 [GRCh38]
Chr16:88782209 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.949G>A (p.Gly317Ser) single nucleotide variant Inborn genetic diseases [RCV004503636] Chr16:88738005 [GRCh38]
Chr16:88804413 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.107T>A (p.Leu36His) single nucleotide variant Inborn genetic diseases [RCV004503555] Chr16:88749437 [GRCh38]
Chr16:88815845 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1108C>G (p.His370Asp) single nucleotide variant Inborn genetic diseases [RCV004503557] Chr16:88737646 [GRCh38]
Chr16:88804054 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1420G>A (p.Gly474Arg) single nucleotide variant Inborn genetic diseases [RCV004503560] Chr16:88736285 [GRCh38]
Chr16:88802693 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2134G>A (p.Glu712Lys) single nucleotide variant Inborn genetic diseases [RCV004503568] Chr16:88734402 [GRCh38]
Chr16:88800810 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2843G>A (p.Arg948His) single nucleotide variant Inborn genetic diseases [RCV004503577] Chr16:88732483 [GRCh38]
Chr16:88798891 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2947C>T (p.Leu983Phe) single nucleotide variant Inborn genetic diseases [RCV004503580] Chr16:88732379 [GRCh38]
Chr16:88798787 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4616T>C (p.Met1539Thr) single nucleotide variant Inborn genetic diseases [RCV004503598] Chr16:88722889 [GRCh38]
Chr16:88789297 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5168C>T (p.Pro1723Leu) single nucleotide variant Inborn genetic diseases [RCV004503603] Chr16:88721854 [GRCh38]
Chr16:88788262 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5692G>C (p.Glu1898Gln) single nucleotide variant Inborn genetic diseases [RCV004503613] Chr16:88720725 [GRCh38]
Chr16:88787133 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5957C>T (p.Ser1986Leu) single nucleotide variant Inborn genetic diseases [RCV004503620] Chr16:88720276 [GRCh38]
Chr16:88786684 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7393T>C (p.Ser2465Pro) single nucleotide variant Inborn genetic diseases [RCV004503634] Chr16:88715778 [GRCh38]
Chr16:88782186 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1574C>T (p.Thr525Ile) single nucleotide variant Inborn genetic diseases [RCV004503563] Chr16:88735230 [GRCh38]
Chr16:88801638 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2195G>A (p.Ser732Asn) single nucleotide variant Inborn genetic diseases [RCV004503569] Chr16:88734040 [GRCh38]
Chr16:88800448 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3977C>T (p.Ala1326Val) single nucleotide variant Inborn genetic diseases [RCV004503591] Chr16:88725676 [GRCh38]
Chr16:88792084 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4358C>A (p.Thr1453Asn) single nucleotide variant Inborn genetic diseases [RCV004503595] Chr16:88723306 [GRCh38]
Chr16:88789714 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4474G>A (p.Gly1492Ser) single nucleotide variant Inborn genetic diseases [RCV004503597] Chr16:88723116 [GRCh38]
Chr16:88789524 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5086A>C (p.Ile1696Leu) single nucleotide variant Inborn genetic diseases [RCV004503601] Chr16:88721936 [GRCh38]
Chr16:88788344 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5281C>T (p.Arg1761Trp) single nucleotide variant Inborn genetic diseases [RCV004503604] Chr16:88721660 [GRCh38]
Chr16:88788068 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7088C>G (p.Pro2363Arg) single nucleotide variant Inborn genetic diseases [RCV004503630] Chr16:88716239 [GRCh38]
Chr16:88782647 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1102G>C (p.Asp368His) single nucleotide variant Inborn genetic diseases [RCV004503556] Chr16:88737733 [GRCh38]
Chr16:88804141 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1153G>A (p.Val385Met) single nucleotide variant Inborn genetic diseases [RCV004503558] Chr16:88737601 [GRCh38]
Chr16:88804009 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1441C>T (p.Arg481Cys) single nucleotide variant Inborn genetic diseases [RCV004503561] Chr16:88736264 [GRCh38]
Chr16:88802672 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1624G>A (p.Ala542Thr) single nucleotide variant Inborn genetic diseases [RCV004503564] Chr16:88735180 [GRCh38]
Chr16:88801588 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.1868G>A (p.Arg623Gln) single nucleotide variant Inborn genetic diseases [RCV004503566] Chr16:88734779 [GRCh38]
Chr16:88801187 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2284G>T (p.Gly762Trp) single nucleotide variant Inborn genetic diseases [RCV004503571] Chr16:88733951 [GRCh38]
Chr16:88800359 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2293G>A (p.Val765Met) single nucleotide variant Inborn genetic diseases [RCV004503572] Chr16:88733942 [GRCh38]
Chr16:88800350 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.2419C>T (p.Arg807Trp) single nucleotide variant Inborn genetic diseases [RCV004503573] Chr16:88733656 [GRCh38]
Chr16:88800064 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2557A>T (p.Met853Leu) single nucleotide variant Inborn genetic diseases [RCV004503574] Chr16:88733385 [GRCh38]
Chr16:88799793 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2641G>C (p.Glu881Gln) single nucleotide variant Inborn genetic diseases [RCV004503575] Chr16:88733301 [GRCh38]
Chr16:88799709 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.2824G>A (p.Glu942Lys) single nucleotide variant Inborn genetic diseases [RCV004503576] Chr16:88732502 [GRCh38]
Chr16:88798910 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3223G>A (p.Val1075Ile) single nucleotide variant Inborn genetic diseases [RCV004503581] Chr16:88727635 [GRCh38]
Chr16:88794043 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.3272T>G (p.Phe1091Cys) single nucleotide variant Inborn genetic diseases [RCV004503582] Chr16:88727586 [GRCh38]
Chr16:88793994 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.327G>C (p.Arg109Ser) single nucleotide variant Inborn genetic diseases [RCV004503584] Chr16:88741616 [GRCh38]
Chr16:88808024 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3331C>A (p.Gln1111Lys) single nucleotide variant Inborn genetic diseases [RCV004503585] Chr16:88727163 [GRCh38]
Chr16:88793571 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3463C>G (p.Leu1155Val) single nucleotide variant Inborn genetic diseases [RCV004503587] Chr16:88726951 [GRCh38]
Chr16:88793359 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3541C>T (p.Arg1181Cys) single nucleotide variant Inborn genetic diseases [RCV004503588] Chr16:88726873 [GRCh38]
Chr16:88793281 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.358C>T (p.Arg120Trp) single nucleotide variant Inborn genetic diseases [RCV004503589] Chr16:88741585 [GRCh38]
Chr16:88807993 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.3814A>G (p.Arg1272Gly) single nucleotide variant Inborn genetic diseases [RCV004503590] Chr16:88726438 [GRCh38]
Chr16:88792846 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4214C>T (p.Pro1405Leu) single nucleotide variant Inborn genetic diseases [RCV004503594] Chr16:88725029 [GRCh38]
Chr16:88791437 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.4639C>T (p.Arg1547Cys) single nucleotide variant Inborn genetic diseases [RCV004503599] Chr16:88722866 [GRCh38]
Chr16:88789274 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5560A>G (p.Thr1854Ala) single nucleotide variant Inborn genetic diseases [RCV004503606] Chr16:88721274 [GRCh38]
Chr16:88787682 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5600G>C (p.Arg1867Thr) single nucleotide variant Inborn genetic diseases [RCV004503607] Chr16:88721234 [GRCh38]
Chr16:88787642 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5627G>T (p.Arg1876Met) single nucleotide variant Inborn genetic diseases [RCV004503610] Chr16:88721207 [GRCh38]
Chr16:88787615 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5648G>A (p.Arg1883Gln) single nucleotide variant Inborn genetic diseases [RCV004503611] Chr16:88721186 [GRCh38]
Chr16:88787594 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001142864.4(PIEZO1):c.5692G>A (p.Glu1898Lys) single nucleotide variant Inborn genetic diseases [RCV004503612] Chr16:88720725 [GRCh38]
Chr16:88787133 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5737C>G (p.Pro1913Ala) single nucleotide variant Inborn genetic diseases [RCV004503615] Chr16:88720680 [GRCh38]
Chr16:88787088 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5859G>C (p.Lys1953Asn) single nucleotide variant Inborn genetic diseases [RCV004503618] Chr16:88720475 [GRCh38]
Chr16:88786883 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.5962G>A (p.Ala1988Thr) single nucleotide variant Inborn genetic diseases [RCV004503621] Chr16:88720271 [GRCh38]
Chr16:88786679 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.6993C>G (p.Asn2331Lys) single nucleotide variant Inborn genetic diseases [RCV004503629] Chr16:88716417 [GRCh38]
Chr16:88782825 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.719T>A (p.Ile240Asn) single nucleotide variant Inborn genetic diseases [RCV004503631] Chr16:88738356 [GRCh38]
Chr16:88804764 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001142864.4(PIEZO1):c.7318A>G (p.Ile2440Val) single nucleotide variant Inborn genetic diseases [RCV004503632] Chr16:88715853 [GRCh38]
Chr16:88782261 [GRCh37]
Chr16:16q24.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR10Bhsa-miR-10b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22322955

Predicted Target Of
Summary Value
Count of predictions:4767
Count of miRNA genes:1115
Interacting mature miRNAs:1398
Transcripts:ENST00000301015, ENST00000327397, ENST00000419505, ENST00000466823, ENST00000472168, ENST00000474606, ENST00000475586, ENST00000484567, ENST00000490756, ENST00000491917, ENST00000495568, ENST00000497793, ENST00000518793, ENST00000521877, ENST00000566414
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D16S520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371686,516,144 - 86,516,334UniSTSGRCh37
Build 361685,073,645 - 85,073,835RGDNCBI36
Celera1670,817,009 - 70,817,197RGD
Cytogenetic Map16q24UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16q23-q24UniSTS
HuRef1672,255,770 - 72,255,958UniSTS
Marshfield Genetic Map16125.82UniSTS
Marshfield Genetic Map16125.82RGD
Genethon Genetic Map16123.3UniSTS
deCODE Assembly Map16122.84UniSTS
GeneMap99-GB4 RH Map16477.95UniSTS
Whitehead-RH Map16338.5UniSTS
RH94123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,781,625 - 88,781,752UniSTSGRCh37
Build 361687,309,126 - 87,309,253RGDNCBI36
Celera1673,852,837 - 73,852,964UniSTS
Celera1673,276,773 - 73,276,900RGD
Cytogenetic Map16q24.3UniSTS
HuRef1674,477,512 - 74,477,639UniSTS
GeneMap99-GB4 RH Map16488.68UniSTS
D16S2592E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,781,856 - 88,782,039UniSTSGRCh37
Build 361687,309,357 - 87,309,540RGDNCBI36
Celera1673,853,068 - 73,853,251RGD
Cytogenetic Map16q24.3UniSTS
HuRef1674,477,743 - 74,477,926UniSTS
SHGC-149930  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,824,889 - 88,825,212UniSTSGRCh37
Build 361687,352,390 - 87,352,713RGDNCBI36
Celera1673,893,518 - 73,893,841RGD
Cytogenetic Map16q24.3UniSTS
HuRef1674,523,020 - 74,523,343UniSTS
TNG Radiation Hybrid Map1640562.0UniSTS
SHGC-61047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,782,050 - 88,782,234UniSTSGRCh37
Build 361687,309,551 - 87,309,735RGDNCBI36
Celera1673,853,262 - 73,853,446RGD
Cytogenetic Map16q24.3UniSTS
HuRef1674,477,937 - 74,478,121UniSTS
GeneMap99-GB4 RH Map16488.68UniSTS
NCBI RH Map16681.0UniSTS
D1S3693  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p15.3-p15.2UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q32.3-q41UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q12UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2396 2138 1414 518 1553 361 3501 1070 1828 316 1130 1551 170 1204 1986 3
Low 37 846 309 104 378 103 854 1123 1880 102 318 51 1 802 1
Below cutoff 1 1 15 6 2 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA682915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA825468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB161230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL582912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE066337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU633404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN280966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR731297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY165228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC602455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM914592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM914593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM914594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM914595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM914596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM914597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301015   ⟹   ENSP00000301015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,715,338 - 88,785,220 (-)Ensembl
RefSeq Acc Id: ENST00000327397   ⟹   ENSP00000333704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,715,491 - 88,717,611 (-)Ensembl
RefSeq Acc Id: ENST00000419505   ⟹   ENSP00000406358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,715,343 - 88,719,890 (-)Ensembl
RefSeq Acc Id: ENST00000466823   ⟹   ENSP00000456373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,717,715 - 88,720,258 (-)Ensembl
RefSeq Acc Id: ENST00000472168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,715,816 - 88,716,792 (-)Ensembl
RefSeq Acc Id: ENST00000474606   ⟹   ENSP00000428673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,722,982 - 88,726,344 (-)Ensembl
RefSeq Acc Id: ENST00000475586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,723,947 - 88,726,025 (-)Ensembl
RefSeq Acc Id: ENST00000484567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,715,346 - 88,718,741 (-)Ensembl
RefSeq Acc Id: ENST00000490756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,732,464 - 88,732,980 (-)Ensembl
RefSeq Acc Id: ENST00000491917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,727,055 - 88,727,843 (-)Ensembl
RefSeq Acc Id: ENST00000495568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,717,023 - 88,720,473 (-)Ensembl
RefSeq Acc Id: ENST00000497793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,718,972 - 88,720,387 (-)Ensembl
RefSeq Acc Id: ENST00000518793   ⟹   ENSP00000456680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,715,346 - 88,716,277 (-)Ensembl
RefSeq Acc Id: ENST00000521877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,715,449 - 88,716,212 (-)Ensembl
RefSeq Acc Id: ENST00000566414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,722,523 - 88,723,934 (-)Ensembl
RefSeq Acc Id: NM_001142864   ⟹   NP_001136336
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,715,338 - 88,785,220 (-)NCBI
GRCh371688,781,746 - 88,851,372 (-)RGD
Celera1673,852,958 - 73,920,009 (-)RGD
HuRef1674,477,633 - 74,549,500 (-)NCBI
CHM1_11690,193,016 - 90,262,796 (-)NCBI
T2T-CHM13v2.01694,785,806 - 94,856,736 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001136336   ⟸   NM_001142864
- UniProtKB: A7E2B7 (UniProtKB/Swiss-Prot),   A6NHT9 (UniProtKB/Swiss-Prot),   Q0KKZ9 (UniProtKB/Swiss-Prot),   Q92508 (UniProtKB/Swiss-Prot),   M4QHP2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000456680   ⟸   ENST00000518793
RefSeq Acc Id: ENSP00000456373   ⟸   ENST00000466823
RefSeq Acc Id: ENSP00000406358   ⟸   ENST00000419505
RefSeq Acc Id: ENSP00000333704   ⟸   ENST00000327397
RefSeq Acc Id: ENSP00000301015   ⟸   ENST00000301015
RefSeq Acc Id: ENSP00000428673   ⟸   ENST00000474606
Protein Domains
PIEZO   Piezo non-specific cation channel R-Ras-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92508-F1-model_v2 AlphaFold Q92508 1-2521 view protein structure

Promoters
RGD ID:6793308
Promoter ID:HG_KWN:24467
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000327397,   OTTHUMT00000345711,   UC002FLO.2,   UC002FLP.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,310,251 - 87,312,417 (-)MPROMDB
RGD ID:6793114
Promoter ID:HG_KWN:24469
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000345708,   OTTHUMT00000345709,   OTTHUMT00000345710,   UC002FLQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,313,866 - 87,315,362 (-)MPROMDB
RGD ID:6793109
Promoter ID:HG_KWN:24470
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000345706,   OTTHUMT00000345707
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,319,851 - 87,321,252 (-)MPROMDB
RGD ID:6793107
Promoter ID:HG_KWN:24473
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000345704
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,326,576 - 87,327,842 (-)MPROMDB
RGD ID:6793129
Promoter ID:HG_KWN:24474
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:UC002FLR.2,   UC010CIB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,329,431 - 87,329,931 (-)MPROMDB
RGD ID:7233121
Promoter ID:EPDNEW_H22306
Type:initiation region
Name:PIEZO1_1
Description:piezo type mechanosensitive ion channel component 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,785,220 - 88,785,280EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28993 AgrOrtholog
COSMIC PIEZO1 COSMIC
Ensembl Genes ENSG00000103335 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301015 ENTREZGENE
  ENST00000301015.14 UniProtKB/Swiss-Prot
  ENST00000327397.8 UniProtKB/TrEMBL
  ENST00000419505.5 UniProtKB/TrEMBL
  ENST00000466823.3 UniProtKB/TrEMBL
  ENST00000474606.1 UniProtKB/TrEMBL
  ENST00000518793.6 UniProtKB/TrEMBL
GTEx ENSG00000103335 GTEx
HGNC ID HGNC:28993 ENTREZGENE
Human Proteome Map PIEZO1 Human Proteome Map
InterPro Piezo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piezo_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piezo_RRas-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9780 UniProtKB/Swiss-Prot
NCBI Gene 9780 ENTREZGENE
OMIM 611184 OMIM
PANTHER PIEZO-TYPE MECHANOSENSITIVE ION CHANNEL COMPONENT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIEZO-TYPE MECHANOSENSITIVE ION CHANNEL COMPONENT 1 UniProtKB/TrEMBL
  PIEZO-TYPE MECHANOSENSITIVE ION CHANNEL HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13167 UniProtKB/TrEMBL
Pfam PIEZO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piezo_RRas_bdg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394558 PharmGKB
UniProt A6NHT9 ENTREZGENE
  A7E2B7 ENTREZGENE
  E7EUT2_HUMAN UniProtKB/TrEMBL
  H0YB49_HUMAN UniProtKB/TrEMBL
  H3BRR7_HUMAN UniProtKB/TrEMBL
  H3BSF6_HUMAN UniProtKB/TrEMBL
  H7C2J5_HUMAN UniProtKB/TrEMBL
  M4QHP2 ENTREZGENE, UniProtKB/TrEMBL
  PIEZ1_HUMAN UniProtKB/Swiss-Prot
  Q0KKZ9 ENTREZGENE
  Q92508 ENTREZGENE
UniProt Secondary A6NHT9 UniProtKB/Swiss-Prot
  A7E2B7 UniProtKB/Swiss-Prot
  Q0KKZ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-12-18 PIEZO1  piezo type mechanosensitive ion channel component 1 (Er blood group)  PIEZO1  piezo type mechanosensitive ion channel component 1  Symbol and/or name change 19259463 PROVISIONAL
2016-02-10 PIEZO1  piezo type mechanosensitive ion channel component 1  PIEZO1  piezo-type mechanosensitive ion channel component 1  Symbol and/or name change 5135510 APPROVED
2011-09-13 PIEZO1  piezo-type mechanosensitive ion channel component 1  FAM38A  family with sequence similarity 38, member A  Symbol and/or name change 5135510 APPROVED